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10.内分泌科
10.1 疾病诊断名词
17，20裂解酶缺陷症 17，20-lyase deficiency ［又称］17，20-裂链酶缺陷症 △
17α-羟化酶/17，20裂解酶（CYP17）缺陷症 17α-hydroxylase deficiency/17，20-lyase（CYP17）deficiency
17α-羟化酶缺乏症 17α-hydroxylase deficiency
17-羟化酶缺陷症 17-hydroxylase deficiency
18-羟化酶缺陷症 18-hydroxylase deficiency
18-氧化酶缺陷症 18-oxidase deficiency
1型家族性糖皮质激素缺陷症 type 1 familial glucocorticoid deficiency（FGD type 1）
1型糖尿病 type 1 diabetes
1型糖尿病伴勃起功能障碍 type 1 diabetes with erectile dysfunction
1型糖尿病伴动脉粥样硬化 type 1 diabetes with atherosclerosis
1型糖尿病伴多并发症 type 1 diabetes with multiple complications
1型糖尿病伴反复低血糖发作 type 1 diabetes with recurrent hypoglycemia
1型糖尿病伴冠心病 type 1 diabetes with coronary heart disease
1型糖尿病伴红斑 type 1 diabetes with erythema
1型糖尿病伴红癣面容 type 1 diabetes with rubeosis faciei
1型糖尿病伴虹膜红变 type 1 diabetes with rubeosis of iris
1型糖尿病伴肌病 type 1 diabetes with myopathy
1型糖尿病伴肌坏死 type 1 diabetes with myonecrosis
1型糖尿病伴急性胰腺炎 type 1 diabetes with acute pancreatitis
1型糖尿病伴脊髓病 type 1 diabetes with myelopathy
1型糖尿病伴甲周毛细血管扩张 type 1 diabetes with periungual telangiectasia
1型糖尿病伴脑血管疾病 type 1 diabetes with cerebrovascular disease
1型糖尿病伴逆行射精 type 1 diabetes with retrograde ejaculation
1型糖尿病伴女性性功能障碍 type 1 diabetes with female sexual dysfunction
1型糖尿病伴青光眼 type 1 diabetes with glaucoma
1型糖尿病伴缺血性心肌病 type 1 diabetes with ischemic cardiomyopathy
1型糖尿病伴乳酸性酸中毒 type 1 diabetes with lactic acidosis
1型糖尿病伴神经系统并发症 type 1 diabetes mellitus with neurological complication
1型糖尿病伴肾乳头坏死 type 1 diabetes with renal papillary necrosis
1型糖尿病伴食管功能障碍 type 1 diabetes with esophageal dysfunction
1型糖尿病伴糖尿病足 type 1 diabetes with diabetic foot
1型糖尿病伴体位性低血压 type 1 diabetes with orthostatic hypotension
1型糖尿病伴外周动脉闭塞症 type 1 diabetes with peripheral arterial occlusive disease
1型糖尿病伴腕管综合征 type 1 diabetes with carpal tunnel syndrome
1型糖尿病伴下肢动脉粥样硬化 type 1 diabetes with lower extremity atherosclerosis
1型糖尿病伴新生血管性青光眼 type 1 diabetes with neovascular glaucoma
1型糖尿病伴血糖控制不佳 type 1 diabetes with poor glycemic control
1型糖尿病大血管并发症 type 1 diabetes with macrovascular complication
1型糖尿病低血糖昏迷 type 1 diabetic hypoglycemic coma ［又称］1型糖尿病性低血糖昏迷 △
1型糖尿病非增殖期糖尿病视网膜病变 type 1 diabetes with nonproliferative diabetic retinopathy
1型糖尿病高渗性高血糖状态 type 1 diabetes with hyperosmolar hyperglycemic state
1型糖尿病高血糖状态昏迷 type 1 diabetes hyperglycemia coma ［又称］1型糖尿病性高血糖状态昏迷 △
1型糖尿病黄斑水肿 type 1 diabetes with macular edema
1型糖尿病泌尿生殖系统自主神经病变 type 1 diabetes with genitourinary autonomic neuropathy
1型糖尿病牵拉性视网膜脱离 type 1 diabetes with tractional retinal detachment
1型糖尿病乳酸性中毒并昏迷 type 1 diabetes with lactic acidosis and coma ［又称］1型糖尿病伴乳酸性酸中毒并昏迷 △
1型糖尿病神经病变 type 1 diabetes with neuropathy
1型糖尿病神经根神经丛病变 type 1 diabetes with radiculoplexus neuropathy
1型糖尿病神经性膀胱 type 1 diabetes with neurogenic bladder
1型糖尿病肾病 type 1 diabetes with diabetic nephropathy
1型糖尿病痛性神经病变 type 1 diabetes with painful polyneuropathy
1型糖尿病胃肠道自主神经病变 type 1 diabetes with gastrointestinal autonomic neuropathy
1型糖尿病性便秘 type 1 diabetes with constipation
1型糖尿病性大疱症 type 1 diabetes with bullae
1型糖尿病性低血糖 type 1 diabetes with hypoglycemia
1型糖尿病性低血糖性癫痫发作 type 1 diabetes hypoglycemic epileptic seizure ［又称］1型糖尿病低血糖性癫痫发作 △
1型糖尿病性富尼埃（阴囊）坏疽 type 1 diabetes with Fournier gangrene ［又称］1型糖尿病性富尼埃氏坏疽 △
1型糖尿病性高渗性高血糖状态昏迷 type 1 diabetes with hyperosmotic hyperglycemia coma ［又称］1型糖尿病高渗性高血糖状态并昏迷 △
1型糖尿病性坏疽 type 1 diabetes with gangrene
1型糖尿病性急性皮肤坏疽 type 1 diabetes with acute skin gangrene
1型糖尿病性急性牙周脓肿 type 1 diabetic with acute periodontal abscess
1型糖尿病性溃疡 type 1 diabetes ulcer
1型糖尿病性曼莱尼坏疽 type 1 diabetes with Manley gangrene ［又称］1型糖尿病性曼莱尼氏坏疽
1型糖尿病性皮肤病 type 1 diabetic skin disease
1型糖尿病性皮肤增厚 type 1 diabetic with thick skin
1型糖尿病性溶血性坏疽 type 1 diabetic hemolytic gangrene
1型糖尿病性酮症 type 1 diabetic ketosis ［又称］1型糖尿病酮症 △
1型糖尿病性酮症酸中毒 type 1 diabetic ketoacidosis ［又称］1型糖尿病酮症酸中毒 △
1型糖尿病性酮症酸中毒并昏迷 type 1 diabetic ketoacidosis and coma ［又称］1型糖尿病酮症酸中毒并昏迷 △
1型糖尿病性酮症酸中毒和乳酸性酸中毒并昏迷 type 1 diabetic ketoacidosis and lactic acidosis and coma
1型糖尿病性细菌性坏疽 type 1 diabetic bacterial gangrene
1型糖尿病性下肢溃疡 type 1 diabetic lower limb ulcer ［又称］1型糖尿病性溃疡 △
1型糖尿病性心肌病 type 1 diabetic with cardiomyopathy
1型糖尿病性心血管自主神经病变 type 1 diabetes with cardiac autonomic neuropathy
1型糖尿病性硬肿病 type 1 diabetic with scleredema
1型糖尿病性脂质渐进性坏死 type 1 diabetes with necrobiosis lipoidica
1型糖尿病性足坏疽 type 1 diabetic foot gangrene
1型糖尿病性足溃疡和周围神经病 type 1 diabetic foot ulcer and peripheral neuropathy
1型糖尿病性足溃疡和周围血管病 type 1 diabetic foot ulcer and peripheral vascular disease ［又称］1型糖尿病性溃疡 △
20，22-碳链酶缺陷症 20，22-desmolase deficiency
21-羟化酶缺乏症 21-hydroxylase deficiency ［又称］21-羟化酶缺陷 △
2型家族性糖皮质激素缺陷症 type 2 familial glucocorticoid deficiency，FGD type 2
2型糖尿病 type 2 diabetes
2型糖尿病伴勃起功能障碍 type 2 diabetes with erectile dysfunction
2型糖尿病伴动脉粥样硬化 type 2 diabetes with atherosclerosis
2型糖尿病伴多并发症 type 2 diabetes with multiple complications
2型糖尿病伴冠心病 type 2 diabetes with coronary heart disease
2型糖尿病伴红斑 type 2 diabetes with erythema
2型糖尿病伴肌病 type 2 diabetes with myopathy
2型糖尿病伴肌坏死 type 2 diabetes with myonecrosis
2型糖尿病伴急性胰腺炎 type 2 diabetes with acute pancreatitis
2型糖尿病伴甲周毛细血管扩张 type 2 diabetes with periungual telangiectasia
2型糖尿病伴脑血管疾病 type 2 diabetes with cerebrovascular disease
2型糖尿病伴逆行射精 type 2 diabetes with retrograde ejaculation
2型糖尿病伴女性性功能障碍 type 2 diabetes with female sexual dysfunction
2型糖尿病伴青光眼 type 2 diabetes with glaucoma
2型糖尿病伴乳酸性酸中毒 type 2 diabetes with lactic acidosis
2型糖尿病伴肾乳头坏死 type 2 diabetes with renal papillary necrosis
2型糖尿病伴食管功能障碍 type 2 diabetes with esophageal dysfunction
2型糖尿病伴糖尿病足 type 2 diabetes with diabetic foot
2型糖尿病伴体位性低血压 type 2 diabetes with orthostatic hypotension
2型糖尿病伴外周动脉闭塞症 type 2 diabetes with peripheral arterial occlusive disease
2型糖尿病伴腕管综合征 type 2 diabetes with carpal tunnel syndrome
2型糖尿病伴下肢动脉粥样硬化 type 2 diabetes with lower extremity atherosclerosis
2型糖尿病伴新生血管性青光眼 type 2 diabetes with neovascular glaucoma
2型糖尿病伴血糖控制不佳 type 2 diabetes with poor glycemic control
2型糖尿病大血管并发症 type 2 diabetes with macrovascular complication
2型糖尿病单神经病变 type 2 diabetes with mononeuropathy
2型糖尿病低血糖 type 2 diabetes with hypoglycemia
2型糖尿病多神经病变 type 2 diabetes with polyneuropathy
2型糖尿病非增殖期视糖尿病视网膜病变 type 2 diabetes with nonproliferative diabetic retinopathy
2型糖尿病高渗性高血糖状态 type 2 diabetes with hyperosmolar hyperglycemic state
2型糖尿病高血糖状态昏迷 type 2 diabetic hyperglycemia coma ［又称］2型糖尿病性高血糖状态昏迷 △
2型糖尿病黄斑水肿 type 2 diabetes with macular edema
2型糖尿病泌尿生殖系统自主神经病变 type 2 diabetes with genitourinary autonomic neuropathy
2型糖尿病牵拉性视网膜脱离 type 2 diabetes with tractional retinal detachment
2型糖尿病神经病变 type 2 diabetes with neuropathy
2型糖尿病神经根神经丛病变 type 2 diabetes with radiculoplexus neuropathy
2型糖尿病神经性膀胱 type 2 diabetes with neurogenic bladder
2型糖尿病肾病 type 2 diabetes with diabetic nephropathy
2型糖尿病酮症酸中毒 type 2 diabetes with ketoacidosis
2型糖尿病痛性神经病变 type 2 diabetes with painful polyneuropathy
2型糖尿病胃肠道自主神经病变 type 2 diabetic with gastrointestinal autonomic neuropathy
2型糖尿病性伴缺血性心肌病 type 2 diabetic with ischemic cardiomyopathy
2型糖尿病性便秘 type 2 diabetic with constipation
2型糖尿病性大疱症 type 2 diabetic with bullae
2型糖尿病性低血糖昏迷 type 2 diabetic hypoglycemic coma ［又称］2型糖尿病低血糖昏迷 △
2型糖尿病性低血糖性癫痫发作 type 2 diabetic hypoglycemic epileptic seizure ［又称］2型糖尿病低血糖性癫痫发作 △
2型糖尿病性多发性微血管并发症 type 2 diabetic multiple microvascular complications
2型糖尿病性富尼埃（阴囊）坏疽 type 2 diabetes with Fournier gangrene ［又称］2型糖尿病性富尼埃氏坏疽 △
2型糖尿病性高渗性高血糖状态昏迷 type 2 diabetic with hyperosmotic hyperglycemia coma ［又称］2型糖尿病高渗性高血糖状态并昏迷 △
2型糖尿病性黑棘皮病或血脂异常或高胰岛素血症或肥胖症 type 2 diabetes with acanthosis nigricans or dyslipidemia or hyperinsulinemia or obesity
2型糖尿病性坏疽 type 2 diabetes with gangrene
2型糖尿病性急性皮肤坏疽 type 2 diabetes with acute skin gangrene
2型糖尿病性急性牙周脓肿 type 2 diabetic with acute periodontal abscess
2型糖尿病性溃疡 type 2 diabetic ulcer
2型糖尿病性曼莱尼坏疽 type 2 diabetes with Manley gangrene
2型糖尿病性内脏脂肪沉积增加 type 2 diabetic visceral fat deposition
2型糖尿病性皮肤病 type 2 diabetic dermatosis
2型糖尿病性皮肤增厚 type 2 diabetic with thick skin
2型糖尿病性溶血性坏疽 type 2 diabetic hemolytic gangrene
2型糖尿病性乳酸性酸中毒和昏迷 type 2 diabetic lactic acidosis and coma ［又称］2型糖尿病伴乳酸性酸中毒并昏迷 △
2型糖尿病性酮症 type 2 diabetic ketosis ［又称］2型糖尿病酮症 △
2型糖尿病性酮症酸中毒 type 2 diabetic ketoacidosis
2型糖尿病性酮症酸中毒和昏迷 type 2 diabetic ketoacidosis and coma ［又称］2型糖尿病酮症酸中毒并昏迷 △
2型糖尿病性酮症酸中毒和乳酸性酸中毒和昏迷 type 2 diabetic ketoacidosis and lactic acidosis and coma
2型糖尿病性细菌性坏疽 type 2 diabetic bacterial gangrene
2型糖尿病性下肢感染 type 2 diabetic lower extremity infection
2型糖尿病性下肢溃疡 type 2 diabetic lower limb ulcer
2型糖尿病性心肌病 type 2 diabetic cardiomyopathy
2型糖尿病性心血管自主神经病变 type 2 diabetes with cardiac autonomic neuropathy
2型糖尿病性胰岛素抵抗 type 2 diabetes insulin resistance
2型糖尿病性硬肿病 type 2 diabetic with scleredema
2型糖尿病性脂质渐进性坏死 type 2 diabetes with necrobiosis lipoidica
2型糖尿病性足坏疽 type 2 diabetic foot gangrene
2型糖尿病性足溃疡和周围神经病 type 2 diabetic foot ulcer and peripheral neuropathy ［又称］2型糖尿病周围神经病变 △
2型糖尿病性足溃疡和周围血管病 type 2 diabetic foot ulcer and peripheral vascular disease ［又称］2型糖尿病性周围血管病变 △
2型糖尿病增殖期糖尿病视网膜病变 type 2 diabetes with proliferative retinopathy
3A综合征 3A syndrome ［又称］Allgrove综合征 △
3β-羟类固醇脱氢酶缺陷症 3β-hydroxysteroid dehydrogenase deficiency
3-甲基戊烯二酸尿症2型 3-methyl glutaric aciduria type 2
3-羟脂酰辅酶A脱氢酶缺陷所致的高胰岛素血症 hyperinsulinism due to 3-hydroxylipidol coenzyme A dehydrogenase deficiency
45，XO/46，XY-混合型性腺发育不良 45，XO/46，XY-mixed gonadal dysgenesis syndrome
45，XO-特纳综合征 45，XO-Turner syndrome ［又称］女性性腺发育障碍综合征 △
46XY型单纯性性腺发育障碍 46，XY gonadal dysgenesis（Swyer’s syndrome）
5α-还原酶-2（SRD5A2）缺陷症 5α-reductase-2（SRD5A2）deficiency
ACTH非依赖性大结节增生 ACTH-independent macronodular hyperplasia
ACTH非依赖性库欣综合征 ACTH-independent Cushing syndrome
ACTH依赖性库欣综合征 ACTH-dependent Cushing syndrome
B型圣菲利浦综合征 B Saint Philip syndrome
C型圣菲利浦综合征 C Saint Philip syndrome
D型圣菲利浦综合征 D Saint Philip syndrome ［又称］Hurler综合征（黏多糖贮积症IH型） △
Gitelman综合征 Gitelman syndrome ［又称］吉特曼综合征 △
Gordon综合征 Gordon syndrome ［又称］假性醛固酮减少症 △，戈登综合征 △
HCG相关性甲状腺功能亢进症 HCG associated hyperthyroidism
IgG4相关甲状腺疾病 IgG4 associated thyroid disease
Jansen干骺软骨发育不良 Jansen’s metaphyseal chondrodysplasia
Kir6.2缺陷所致二氮嗪抵抗的局灶高胰岛素血症 diazoxideresistant focal hyperinsulinism due to Kir6.2 deficiency
Laron综合征 Laron syndrome
McCune-Albright综合征 McCune-Albright syndrome
Menkes病［铜发病］ Menkes disease［pathogenesis of copper］ ［又称］门克病 △
Möbius综合征-轴突性神经病-低促性腺素性功能减退症 Möbius syndrome-axonal neuropathy-hypogonadotropic hypogonadism
NADH-辅酶Q还原酶缺陷 NADH-CoQ reductase deficiency
P450scc缺陷症/胆固醇侧链裂解酶缺乏症 P450scc deficiency/cholesterol side-chain cleavage enzyme deficiency
P450氧化还原酶（POR）缺陷症 P450 oxidoreductase（POR）deficiency
Rabson-Mendenhall综合征 Rabson-Mendenhall syndrome
Rathke囊肿 Rathke’s cyst
SUR1缺陷所致二氮嗪抵抗的局灶高胰岛素血症 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
TSH受体突变型家族性甲状腺功能亢进症 familial hyperthyroidism due to mutation of TSH receptor
TSH受体突变致甲状腺功能减退症 hypothyroidism due to TSH receptor mutation
TSH依赖性甲状腺功能亢进症 TSH dependent hyperthyroidism
Van Buchem病 Van Buchem’s disease
X连锁低血磷性佝偻病 X-linked hypophosphatemic rickets
X连锁低血磷性骨软化 X-linked hypophosphatemic osteomalacia
X性连锁肾上腺脑白质营养不良症 X-linked Adrenoleucodystrophy
阿尔斯特雷姆综合征 Alström syndrome
艾迪生病 Addison disease
艾迪生病危象 Addisonian crisis
安德森病 Anderson’s disease
鞍区错构瘤 sellar hamartoma
鞍区动脉瘤 sellar aneurysm
鞍区脊索瘤 sellar chordoma
鞍区结核 sellar tuberculosis
鞍区结节病 sellar sarcoidosis
鞍区颗粒细胞瘤 sellar granular cell tumor
鞍区毛细胞型星形细胞瘤 sellar pilocytic astrocytoma
鞍区脓肿 sellar abscess
鞍区神经胶质瘤 sellar glioma
鞍区神经鞘瘤 sellar schwannoma
鞍区占位性质不明 sellar mass of unknown etiology
鞍区转移性肿瘤 sellar metastatic tumor
巴特尔综合征 Bartter syndrome ［又称］先天性醛固酮增多症 △，血管紧张素反应缺乏症 △，肾小球旁器增生症 △，先天性低钾血症 △，肾小管性碱中毒 △
白化病 albinism
白内障-耳聋-性腺功能减退 cataract-deafness-hypogonadism
白内障-智力低下-性腺功能减退 cataract-intellectual deficit-hypogonadism
伴孤立性的生长激素缺乏的X连锁的智力缺陷综合征 X-linked intellectual deficiency syndrome with isolated growth hormone deficiency
伴生殖器异常的X连锁无脑回综合征 X-linked lissencephaly syndrome with abnormal genitalia
暴发性1型糖尿病 fulminant type 1 diabetes
背部脂肪增多症 back lipomatosis
变形性骨炎伴骨关节炎 Paget’s disease with osteoarthritis
变形性骨炎伴骨肉瘤 Paget’s disease with osteosarcoma
变形性骨炎伴颅神经受压 Paget’s disease with cranial nerve compression
表象性盐皮质激素过多综合征 apparent mineralocorticoid excess syndrome
髌骨后脂肪垫综合征 posterior patellar fat pad syndrome ［又称］Hoffa综合征 △，霍法综合征 △
丙酮酸羧化酶缺乏症 pyruvate carboxylase deficiency syndrome
病态肥胖症 morbid obesity
播散性黄瘤 xanthoma disseminatum
部分性脂肪营养不良 partial fat dystrophy
部分性中枢性尿崩症 partial central diabetes insipidus
参与垂体功能与发育的转录因子缺陷所致的甲状腺功能减退症 hypothyroidism due to deficient of transcription factor involved in pituitary function or development
糙皮病 pellagra ［又称］烟酸缺乏 △
产后垂体功能不全综合征 postpartum pituitary dysfunction syndrome ［又称］席恩综合征 △
产后垂体前叶功能减退危象 postpartum hypopituitarism crisis
产前良性低磷酸酶症 prenatal benign hypophosphatasia
常染色体显性骨硬化症 autosomal dominant osteopetrosis
常染色体显性甲状旁腺功能亢进症 autosomal dominant hyperparathyroidism
常染色体显性遗传性Kir6.2突变所致高胰岛素血症 hyperinsulinism due to autosomal dominant Kir6.2 mutation
常染色体显性遗传性SUR1缺陷所致高胰岛素血症 autosomal dominant hyperinsulinism due to SUR1 deficiency
常染色体显性遗传性低血磷性佝偻病 autosomal dominant hypophosphatemic rickets
常染色体显性遗传性低血磷性骨软化 autosomal dominant hypophosphatemic osteomalacia
常染色体隐性骨硬化症 autosomal recessive osteopetrosis
常染色体隐性遗传性Kir6.2缺乏所致高胰岛素血症 autosomal recessive hyperinsulinism due to Kir6.2 deficiency
常染色体隐性遗传性SUR1缺乏所致高胰岛素血症 autosomal recessive hyperinsulinism due to SUR1 deficiency
常染色体隐性遗传性低血磷性佝偻病 autosomal recessive hypophosphatemic rickets
常染色体隐性遗传性低血磷性骨软化 euchromosome recessive hypophosphatemic osteomalacia
超重 overweight
成骨不全1型 osteogenesis imperfecta type Ⅰ
成骨不全2型 osteogenesis imperfecta type Ⅱ
成骨不全3型 osteogenesis imperfecta type Ⅲ
成骨不全4型 osteogenesis imperfecta type Ⅳ
成骨不全5-15型 osteopsathyrosis type 5-15
成年脑型肾上腺脑白质营养不良症 adult cerebaral adrenoleukodystrophy
成人迟发自身免疫性糖尿病 late-onset autoimmune diabetes in adult ［又称］成人隐匿性自身免疫糖尿病 △
成人低磷酸酶症 adult hypophosphatasia
成人起病型非胰岛素瘤性持续性高胰岛素血症性低血糖症 adultonset non-insulinoma persistent hyperinsulinemic hypoglycemia
成人隐匿性自身免疫糖尿病 latent autoimmune diabetes in adult，LADA
迟发性孤立型ACTH缺乏 late-onset isolated ACTH deficiency ［又称］迟发性孤立型ACTH缺乏症 △
垂体瘢痕形成 pituitary scar formation
垂体柄阻断综合征 pituitary stalk interruption syndrome
垂体出血 pituitary hemorrhage
垂体促甲状腺激素腺瘤 pituitary TSH secreting tumor
垂体促肾上腺皮质激素分泌癌 adrenocorticotropic hormone-secreting pituitary carcinoma
垂体促肾上腺皮质激素分泌腺瘤 adrenocorticotropic hormonesecreting pituitary adenoma
垂体促肾上腺皮质激素细胞增生 pituitary corticotroph hyperplasia
垂体促性腺激素腺瘤 pituitary gonadotroph adenoma
垂体大腺瘤 pituitary macroadenoma
垂体多激素分泌腺瘤 multi-hormone pituitary adenoma
垂体恶性肿瘤 pituitary malignant tumor ［又称］垂体腺恶性肿瘤 △
垂体发育不全 pituitary dysplasia
垂体非朗格罕细胞组织细胞增生症 pituitary non-langerhans cell histocytosis
垂体功能不良 dysfunction of pituitary function
垂体功能低下 hypopituitarism
垂体功能减退-身材矮小-骨骼异常综合征 hypopituitarism-short stature-skeletal anomaly syndrome
垂体功能减退症 hypopituitarism
垂体功能亢进 hyperpituitarism
垂体管囊肿 pituitary duct cyst
垂体继发恶性肿瘤 secondary malignant tumor of pituitary gland
垂体结核 tuberculosis of pituitary gland
垂体朗格罕细胞组织细胞增生症 pituitary Langerhans cell histocytosis
垂体良性肿瘤 pituitary benign tumor
垂体瘤 pituitary tumor
垂体囊肿 pituitary cyst
垂体脓肿 pituitary abscess
垂体前叶功能减退 anterior hypopituitarism ［又称］垂体前叶功能减退症 △
垂体前叶功能减退危象 anterior pituitary hypofunction crisis
垂体肉芽肿 pituitary granuloma
垂体生长激素瘤 pituitary growth hormone tumor
垂体危象 pituitary crisis
垂体微腺瘤 pituitary micro adenoma
垂体微小良性肿瘤 pituitary small benign tumor
垂体萎缩 pituitary atrophy
垂体无功能腺瘤 non-functional pituitary adenoma
垂体无功能性腺瘤 nonfunctional pituitary adenoma ［又称］垂体无功能良性肿瘤 △
垂体腺癌 pituitary carcinoma
垂体腺瘤 pituitary adenoma
垂体性肥胖 pituitary obesity
垂体性巨人症 pituitary giant
垂体性库欣综合征 pituitary Cushing syndrome
垂体性嗜碱细胞增生 pituitary basophilism
垂体性侏儒症 pituitary dwarf
垂体炎 pituitary inflammation
垂体增大 pituitary enlargement
垂体增生 pituitary hyperplasia
垂体占位 pituitary occupancy
垂体真菌感染 fungal infection of pituitary
垂体转移癌 pituitary metastasis
垂体卒中 pituitary apoplexy
纯睾丸支持细胞综合征 sertoli-cell-only syndrome ［又称］单纯塞托利细胞综合征 △
醇诱发的假库欣综合征 alcohol induced pseudo Cushing syndrome
雌激素分泌肿瘤 estrogen-producing tumor
刺状红细胞增多 acanthocytosis ［又称］棘红细胞增多症 △
促甲状腺激素不适当分泌 inappropriate thyrotropin secretion
促甲状腺激素腺瘤 thyrotroph adenoma
促肾上腺皮质激素抵抗综合征 adrenocorticotropic hormone resistance syndrome
促肾上腺皮质激素非依赖性肾上腺皮质大结节样增生 adrenocorticotropic hormone-independent macronodular adrenal hyperplasia，AIMAH
催乳素瘤 prolactinoma ［又称］泌乳素瘤 △
催乳素-生长激素混合瘤 lactotroph and somatotroph mixed adenoma
大腿脂肪增多症 thigh lipomatosis
呆小病 cretinism ［又称］克汀病 △，呆小症 △
代谢性碱中毒伴呼吸性酸中毒 metabolic alkalosis with respiratory acidosis
代谢性酸中毒伴呼吸性碱中毒 metabolic acidosis with respiratory alkalosis
代谢障碍 metabolic disturbance
代谢综合征 metabolic syndrome
单纯性肥胖 simple obesity
单纯性甲状腺肿 simple goiter
单纯性肾上腺早发育 simple premature adrenal gland
单纯性阴毛早发育 simple premature pubarche
胆固醇7α-羟化酶缺乏所致的高胆固醇血症 hypercholesterolemia due to cholesterol 7α-hydroxylase deficiency
胆固醇酯转运蛋白缺乏症 cholesteryl ester transfer protein deficiency
胆固醇综合征 cholesterol syndrome
蛋白质-能量营养不良后遗症 protein energy malnutrition sequelae
低α脂蛋白血症 hypo α lipoproteinemia
低β脂蛋白血症 hypo β lipoproteinemia
低促性腺激素性性腺功能减退症 hypogonadotropic hypogonadism ［又称］低促性腺激素性腺功能减退 △，低促性腺激素性性功能减退症 △
低高密度脂蛋白血症 lower high density lipoprotein cholesterol
低肾素性醛固酮减少症 hyporeninemic hypoaldosteronism
低血磷性骨软化症 hypophosphatemic osteomalacia
低血糖发作 episode of hypoglycemia
低血糖昏迷 hypoglycemic coma ［又称］低血糖晕厥 △
低血糖症 hypoglycemia
地方性甲状腺肿 endemic goiter
地方性克汀病 endemic cretinism
第二性征发育不全 secondary sexual character of hypoplasia
典型莫固综合征 typical Morquio’s syndrome
碘缺乏相关性（地方性）甲状腺肿 iodine deficiency associated（endemic）goiter ［又称］碘缺乏相关性甲状腺肿 △
碘缺乏相关性多结节性甲状腺肿 iodine deficiency associated with multiple nodular goiter
碘缺乏相关性弥漫性甲状腺肿 iodine deficiency associated with diffuse goiter
碘源性甲状腺功能减退 iodine induced hypothyroidism
碘源性甲状腺功能亢进 iodine induced hyperthyroidism ［又称］碘源性甲状腺功能亢进症 △
毒性甲状腺腺瘤 toxic thyroid adenoma
毒性结节性甲状腺肿 toxic nodular goiter
短第五掌骨-胰岛素抵抗 short fifth metacarpals-insulin resistance
短暂性桥本甲状腺毒症 transient hashimoto’s thyrotoxicosis
短暂性先天性甲状腺功能减退症 transient congenital hypothyroidism
对肾素有反应的醛固酮分泌腺瘤 aldosterone-producing renin-responsive adenoma
多发性干骺-骨骺点状硬化症 Multiple epiphyseal-epiphyseal punctate sclerosis
多发性内分泌瘤病 multiple endocrine neoplasia
多发性内分泌腺病 multiple endocrine adenopathy ［又称］自身免疫性多内分泌腺综合征 △
多发性神经病-智能障碍-肢端过小症-过早绝经综合征 multiple neuropathy-intellectual deficit-acromicria-premature menopause syndrome
多个营养元素缺乏 multiple nutritional deficiency
多基因性高胆固醇血症 polygenic hypercholesterolemia
多结节甲状腺肿-囊性肾-多指（趾）畸形 multinodulargoiter-cystic kidney-polydactyly
多结节性甲状腺肿伴有甲状腺毒症 multinodulargoiter with thyrotoxicosis
多囊卵巢综合征代谢性手术后 PCOS post-metabolic surgery
多内分泌腺瘤病1型 multiple endocrine neoplasia type 1
多内分泌腺瘤病2A型 multiple endocrine neoplasia type 2A
多内分泌腺瘤病2B型 multiple endocrine neoplasia type 2B
多内分泌腺瘤病2型 multiple endocrine neoplasia type 2
多内分泌腺瘤病4型 multiple endocrine neoplasia type 4
多腺体功能亢进 polyglandular hyperfunction
多腺体功能障碍 polyglandular dysfunction
多种垂体激素缺乏症，基因型 multiple pituitary hormones deficiency，genotype
恶性卵巢甲状腺肿 malignant struma ovarii
恶性嗜铬细胞瘤 malignant pheochromocytoma
恶性嗜铬细胞瘤/副神经节瘤伴多发转移 malignant pheochromocytoma/paraganglioma with multiple metastases
恶性营养不良 kwashiorkor ［又称］夸希奥科病 △
恶性肿瘤体液性高钙血症 malignancy-associated humoral hypercalcemia
儿童脑型肾上腺脑白质营养不良症 childhood cerebral adrenoleukodystrophy
发疹性黄瘤 eruptive xanthoma
法伯综合征 Farber syndrome ［又称］Farber综合征 △
反馈性垂体瘤综合征 feedback pituitary tumor syndrome
反应性低血糖症 reactive hypoglycemia
范康尼综合征 Vanconni’s syndrome，Fanconi syndrome ［又称］Fanconi综合征 △
芳香酶过多综合征 aromatase excess syndrome
芳香酶缺陷症 aromatase deficiency
放疗后肾上腺皮质功能减退症 adrenocortical insufficiency due to radiotherapy
放射碘治疗后甲状腺功能减退症 hypothyroidism after radioactive iodine therapy
放射后垂体功能减退症 post radiation hypopituitarism
放射性甲状腺炎 radioactive thyroiditis
放射治疗后甲状旁腺功能减退症 hypoparathyroidism after radiation therapy
放射治疗后甲状腺功能减退 hypothyroidism after radiation therapy ［又称］放射性碘治疗后甲状腺功能减退症 △
非毒性单个甲状腺结节 nontoxic single thyroid nodule
非毒性单结节性甲状腺肿 nontoxic single nodular goiter
非毒性多个甲状腺结节 nontoxic multiple thyroid nodules
非毒性多结节性甲状腺肿 nontoxic multinodular goitre
非毒性弥漫性甲状腺肿 nontoxic diffuse goitre
非经典型先天性肾上腺皮质增生症 nonclassical congenital adrenocortical hyperplasia ［又称］迟发型先天性肾上腺皮质增生症 △
非糖尿病低血糖性昏迷 nondiabetic hypoglycaemic coma
非糖尿病引起的药物性胰岛素性昏迷 drug-induced insulin coma due to non-diabetes ［又称］胰岛素中毒 △
非胰岛素瘤性胰源性低血糖综合征 non-insulinoma pancreatogenous hypoglycemia syndrome
非增殖期糖尿病视网膜病变 non-proliferative diabetic retinopathy
肥胖 obesity ［又称］肥胖症 △
肥胖低通气综合征 obesity hypoventilation syndrome ［又称］匹克威克综合征 △，Pickwichian综合征 △
肥胖生殖无能综合征 obesity reproductive incompetence syndrome ［又称］肥胖-生殖无能综合征 △
肥胖相关遗传综合征 genetic syndrome associated with obesity
肥胖症代谢性手术后 postoperative status of obesity metabolic surgery
肥胖症手术治疗后 postoperative status of obesity surgery
废用性骨质疏松症 osteoporosis of disuse
分泌睾酮的卵巢肿瘤 testosterone-producing ovarian tumor
分泌睾酮的肾上腺皮质癌 testosterone-producing adrenal cortical carcinoma
枫糖尿病 maple syrup urine disease ［又称］经典型枫糖尿病 △
冯·吉尔克病 Von Gierke disease
福布斯病 Forbes’s disease
副神经节瘤伴肠梗阻 paraganglioma with intestinal obstruction
副神经节瘤伴肠缺血 paraganglioma with intestinal ischemia
副神经节瘤伴多种并发症 paraganglioma with multiple complications
副神经节瘤伴儿茶酚胺心肌病 paraganglioma with catecholamine cardiomyopathy
副神经节瘤伴肺水肿 paraganglioma with pulmonary edema
副神经节瘤伴冠心病 paraganglioma with coronary heart disease
副神经节瘤伴慢性肾病 paraganglioma with chronic kidney disease
副神经节瘤伴脑病 paraganglioma with encephalopathy
副神经节瘤伴脑血管病 paraganglioma with cerebrovascular disease
副神经节瘤伴皮肤溃疡 paraganglioma with skin ulcer
副神经节瘤伴视网膜病变 paraganglioma with retinopathy
副神经节瘤伴糖尿病 paraganglioma with diabetic mellitus
副神经节瘤伴主动脉夹层 paraganglioma associated with aortic dissection
副胰腺 accessorypancreas
副中肾管永存综合征 persistent mullerian duct syndrome
腹部脂肪增多症 abdominal fat
钙质沉着症 calcinosis
干骺端发育不良 metaphyseal dysplasia
干脚气 dry beriberi ［又称］脚气病 △
甘氨酸尿症 glycinuria ［又称］亚氨基甘氨酸尿症 △
甘露糖苷过多症 excess of mannose ［又称］α甘露糖贮积病 △
肝豆状核变性 Wilson disease ［又称］威尔逊病 △
肝细胞核因子1Alpha（HNF1A）基因突变所致的糖尿病 diabetes mellitus caused by hepatocyte nuclear factor-1Alpha（HNF1A）gene mutation
肝细胞核因子1Beta（HNF1B）基因突变所致的糖尿病 diabetes mellitus caused by hepatocyte nuclear factor-1Beta（HNF1B）gene mutation
肝细胞核因子4A（HNF4A）基因突变所致的高胰岛素血症 hyperinsulinism caused by hepatocyte nuclear factor 4A（HNF4A）gene mutation
肝性糖尿病 hepatic diabetes
肝脂酶缺乏症 hepatic lipase deficiency
感染导致的糖尿病 infection induced diabetes mellitus
感染后甲状腺功能减退症 postinfectious hypothyroidism
高促性腺激素性性功能减退症 hypergonadotropic hypogonadism
高促性腺激素性性腺功能减退-白内障综合征 hypergonadotropic hypogonadism-cataract syndrome
高钙尿症 hypercalciuria ［又称］高钙尿 △
高钙危象 hypercalcemic crisis
高甘油三酯血症 hypertriglyceridemia
高磷酸酶症 hyperphosphatasia
高密度脂蛋白缺乏症 high density lipoprotein deficiency
高雄激素血症 hyperandrogenism
高血钠性体液容量过多 humoral excess with hypernatremia
高血压伴低血钾原因未明 unknown etiology of hypertension and hypokalemia
高血压原因未明 unknown etiology of hypertension
高胰岛素高血氨低血糖综合征 hyperinsulinism-hyperammonemia and hypoglycemia syndrome ［又称］高胰岛素-高血氨综合征 △
高脂蛋白a血症 elevated plasma lipoprotein（a）
高脂蛋白血症Ⅱa型 hyperlipidemia，type Ⅱa
高脂蛋白血症Ⅱb型 hyperlipidemia，type Ⅱb
高脂蛋白血症Ⅲ型 hyperlipidemia，type Ⅲ
高脂蛋白血症Ⅳ型 hyperlipidemia，type Ⅳ
高脂蛋白血症Ⅴ型 hyperlipidemia，type Ⅴ
睾丸功能减退症 testicular hypofunction
睾丸功能障碍 testicular dysfunction
睾丸女性化 testicular feminization
睾丸退变 testicular degeneration
睾丸消失综合征 vanishing testis syndrome
睾丸性发育障碍 disorder of testicular origin sex development
睾丸雄激素生物合成障碍 testicular androgen biosynthesis disorder ［又称］雄激素合成与作用障碍 △
格雷夫斯病 Graves’disease ［又称］弥漫性甲状腺肿伴甲状腺功能亢进 △
格雷夫斯皮肤病 Graves’dermopathy
格雷夫斯眼病 Graves’ophthalmopathy
更年期男性乳房发育症 involutional gynecomastia
功能性低促性腺激素性性腺功能减退症 functional hypogonadotropic hypogonadism
功能性低血糖 functional hypoglycemia
功能性非胰岛素性低血糖 functional non-insulin hypoglycemia
共济失调-性腺功能减退-脉络膜萎缩综合征 ataxia-hypogonadismchoroidal dystrophy syndrome
孤立生长激素缺乏症性身材矮小伴x连锁低丙球蛋白血症 short stature due to isolated growth hormone deficiency with x-linked hypogammaglobulinemia
孤立性促甲状腺激素缺乏症 isolated thyroid-stimulating hormone deficiency
孤立性促甲状腺激素释放激素缺乏症 isolated thyrotropin-releasing hormone deficiency
孤立性促肾上腺皮质激素缺乏症 isolated adrenocorticotropic hormone deficiency
孤立性黄体生成素缺乏症 isolated luteinizing hormone（IH）def iciency
孤立性卵泡刺激素缺乏症 isolated follicle-stimulating hormone（FSH）deficiency
孤立性生长激素缺乏症ⅠA型 isolated growth hormone deficiency typeⅠA
孤立性生长激素缺乏症ⅠB型 isolated growth hormone deficiency typeⅠB
孤立性生长激素缺乏症Ⅱ型 isolated growth hormone deficiency type Ⅱ
孤立性生长激素缺乏症Ⅲ型 isolated growth hormone deficiency typeⅢ
孤立性月经早现 isolated premature menarche
谷固醇血症 sitosterolemia
股骨囊性纤维性骨炎 femoral cystic fibrous osteitis
骨肥厚症 hyperostosis ［又称］骨肥大 △
骨骺发育不良 epiphyseal dysplasia
骨畸形 bony abnormality
骨纤维异常增殖症（多骨型） fibrous dysplasia of bone（polyostotic）
骨硬化症 osteopetrosis ［又称］骨骼石化症 △，石骨症 △
哈特纳普病 Hartnup disease ［又称］遗传性烟酸缺乏症 △
海蓝组织细胞增生症 sea blue histiocytosis
赫尔病 Hull’s disease
赫曼斯基-普德拉克综合征 Hermansky-Pudlak syndrome ［又称］赫日曼斯基-普德拉克综合征 △，Hermansky-Pudlak综合征 △
褐黄病 ochronosis ［又称］褐黄病引起的系统性结缔组织疾患 △
黑尿症 black urine disease
亨廷顿病 Huntington disease
后天性碘缺乏性甲状腺功能减退症 acquired iodine deficiency hypothyroidism
呼吸性碱中毒伴代谢性酸中毒 respiratory alkalosis with metabolic acidosis
胡勒-沙伊综合征 Hu Le Shai syndrome
胡勒综合征 Hu Le syndrome
琥珀酸-辅酶Q还原酶缺乏 succinate-coenzyme Q reductase def iciency
化脓性甲状腺炎 suppurative thyroiditis
还原型烟酰胺腺嘌呤二核苷酸-辅酶Q还原酶缺乏 lack of NADH-coenzyme Q reductase
黄色瘤 xanthoma ［又称］黄瘤 △
黄色瘤性垂体炎 xanthomatous hypophysitis
黄体生成素受体突变 IH-receptor mutation
混合型地方性呆小病 mixed endemic cretinism
混合型高脂血症 combined hyperlipidemia
混合型先天性碘缺乏综合征 mixed congenital iodine deficiency syndrome
获得性睾丸功能障碍 acquired testicular dysfunction
获得性甲状腺功能减退症 acquired hypothyroidism
获得性免疫缺陷综合征伴坏死性肾上腺炎 acquired immunodef iciency syndrome associated with necrotic adrenalitis
肌萎缩-共济失调-色素性视网膜炎-糖尿病综合征 syndrome of muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus
基础代谢率异常 abnormality of basal metabolic rate ［又称］BMR异常 △
激素合成障碍不伴甲状腺肿 hormone synthesis obstacle without goiter
激素合成障碍性甲状腺肿 dyshormonogenetic goiter
激素失调 hormonal imbalance
极度肥胖症伴小泡性肺换气不足 extreme obesity with alveolar hypoventilation
急性甲状腺炎 acute thyroiditis
急性尿酸肾病 acute uric acid nephropathy
脊柱干骺端发育不良 spondylometaphyseal dysplasia
继发性肥厚性骨关节病 secondary hypertrophic osteoarthropathy
继发性肥胖症 secondary obesity
继发性高尿酸血症 secondary hyperuricemia
继发性甲状旁腺功能减退 secondary hypoparathyroidism ［又称］获得性甲状旁腺功能减退症 △
继发性甲状旁腺功能亢进症 secondary hyperparathyroidism
继发性甲状腺功能减退 secondary hypothyroidism ［又称］继发性甲状腺功能减退症 △
继发性醛固酮症 secondary aldosteronism
继发性肉碱缺乏症 secondary carnitine deficiency
继发性肾上腺皮质功能减退症 secondary hypoadrenocorticism
继发性肾源性甲状旁腺功能亢进 secondary renal hyperparathyroidism ［又称］继发性肾源性甲状旁腺机能亢进 △
继发性糖尿病 secondary diabetes mellitus
继发性痛风 secondary gout
继发性血脂异常 secondary dyslipidemia
继发于蛋白质-热能营养不良的发育迟缓 developmental delay secondary to protein thermal dystrophy
寂静性甲状腺炎 silent thyroiditis
家族性矮小症 familial short stature
家族性低α脂蛋白血症 familial hypoalphalipoproteinemia
家族性低β脂蛋白血症 familial hypobetalipoproteinemia
家族性低尿钙性高钙血症1型 familial hypocalciuric hypercalcemia type 1
家族性低尿钙性高钙血症2型 familial hypocalciuric hypercalcemia type 2
家族性低尿钙性高钙血症3型 familial hypocalciuric hypercalcemia type 3
家族性低血镁高尿钙肾钙质沉着症 familial hypomagnesemia with hypercalciuria and nephrocalcinosis
家族性副神经节瘤 familial paraganglioma
家族性高胆固醇血症 familial hypercholesterolemia
家族性高甘油三脂血症 familial hypertriglyceridemia
家族性高密度脂蛋白缺乏症 familial tangier disease ［又称］丹吉尔病 △
家族性高脂血症 familial hyperlipidemia
家族性睾丸毒症 familial testotoxicosis
家族性孤立性甲状旁腺功能亢进症 familial isolated hyperparathyroidism
家族性骨质疏松症 familial osteoporosis
家族性混合型高脂血症 familial combined hyperlipidemia
家族性激素生成障碍性甲状腺肿 familial hormone production disorder goiter
家族性甲状舌管囊肿 familial thyroglossalduct cyst
家族性甲状腺激素生成障碍 familial thyroid dyshormonogenesis
家族性甲状腺髓样癌 familial medullary thyroid carcinoma ［又称］家族性甲状腺髓样癌 △
家族性结节性甲状腺肿 familial multinodular goiter
家族性瘤样钙质沉着症 familial tumoral calcinosis
家族性卵巢男胚瘤与甲状腺腺瘤 familial arrhenoblastoma and thyroid adenoma
家族性妊娠期甲状腺毒症 familial gestational thyrotoxicosis
家族性身材矮小症 familial short stature
家族性肾病伴高尿酸血症 familial nephropathy associated with hyperuricemia
家族性肾上腺发育不全伴性腺功能减退症 familial adrenal hypoplasia with hypogonadism
家族性嗜铬细胞瘤 familial pheochromocytoma ［又称］家族性嗜铬细胞细胞瘤 △
家族性糖皮质激素缺陷症 familial glucocorticoid deficiency ［又称］家族性糖皮质激素缺乏症 △
家族性原发性低镁血症 familial primary hypomagnesemia
家族性原发性醛固酮增多症Ⅰ型 familial primary hyperaldosteronism typeⅠ ［又称］糖皮质激素可治性醛固酮增多症 △
家族性原发性醛固酮增多症Ⅱ型 familial primary hyperaldosteronism typeⅡ
家族性原发性醛固酮增多症Ⅲ型 familial primary hyperaldosteronism typeⅢ
家族性载脂蛋白B100缺陷症 familial defective apoB100
甲状旁腺癌 parathyroid carcinoma
甲状旁腺出血 parathyroid hemorrhage
甲状旁腺恶性肿瘤 malignant tumor of parathyroid gland
甲状旁腺功能减退 hypoparathyroidism
甲状旁腺功能减退-发育不良综合征 hypoparathyroidism-retardation-dysmorphism syndrome
甲状旁腺功能减退症伴低血钙性白内障 hypoparathyroidism with hypocalcemic cataract
甲状旁腺功能减退症伴颅内钙化 hypoparathyroidism with intracranial calcification
甲状旁腺功能亢进危象 hyperparathyroidism crisis
甲状旁腺功能亢进症 hyperparathyroidism
甲状旁腺功能亢进症-颌骨肿瘤综合征 hyperparathyroidism-jaw tumor syndrome
甲状旁腺激素升高 parathyroid hormone elevation
甲状旁腺交界性肿瘤 borderline tumor of parathyroid gland
甲状旁腺良性肿瘤 benign tumor of parathyroid gland
甲状旁腺囊肿 parathyroid cyst
甲状旁腺缺失性手足搐搦 lack of parathyroid tetany
甲状旁腺性手足搐搦 parathyroid tetany
甲状旁腺炎 parathyroiditis
甲状旁腺增生 parathyroid hyperplasia
甲状舌骨囊肿 thyroglossal cyst
甲状舌管良性肿瘤 benign tumor of thyroglossal duct
甲状腺C细胞增生 thyroid C cell proliferation
甲状腺癌 thyroid cancer
甲状腺癌术后 postoperation of thyroid cancer
甲状腺半叶发育不全 hypoplasia of thyroid hemiphyll
甲状腺出血 thyroid hemorrhage
甲状腺淀粉样变 thyroid amyloidosis
甲状腺毒症 thyrotoxicosis
甲状腺毒症伴肌病 thyrotoxicosis with myopathy
甲状腺毒症伴周期性瘫痪 thyrotoxic periodic paralysis
甲状腺毒症性关节病 thyrotoxic arthritis
甲状腺发育不全伴黏液性水肿 thyroid dysplasia with mucinous edema ［又称］甲状腺发育不全伴粘液性水肿 △
甲状腺复发性恶性肿瘤 thyroid recurrent malignant neoplasm
甲状腺钙化验 thyroid calcium assay
甲状腺梗死 thyroid infarction
甲状腺功能减退 hypothyroidism
甲状腺功能减退型地方性呆小病 hypothyroidism type of endemic cretinism
甲状腺功能减退性关节炎 hypothyroidism arthritis
甲状腺功能减退性肌病 hypothyroid myopathy ［又称］甲状腺机能减退伴肌病 △
甲状腺功能减退症伴假性肌肥大 hypothyroidism with muscular pseudohypertrophy
甲状腺功能减退症伴妊娠 hypothyroidism with pregnancy
甲状腺功能减退症伴心肌病 hypothyroid with cardiomyopathy
甲状腺功能亢进伴重症肌无力 hyperthyroidism with myasthenia gravis
甲状腺功能亢进症 hyperthyroidism
甲状腺功能亢进症伴妊娠 hyperthyroidism with pregnancy
甲状腺功能亢进症合并周期性麻痹 hyperthyroidism complicated with periodic paralysis
甲状腺功能异常 abnormal thyroid function ［又称］甲状腺功能检查结果异常 △
甲状腺功能正常的病态综合征 euthyroid sick syndrome ［又称］正常甲状腺病态综合征 △
甲状腺功能正常性甲状腺肿 euthyroid goiter
甲状腺激素不敏感综合征 thyroid hormone insensitivity syndrome ［又称］T4抵抗综合征 △
甲状腺激素抵抗综合征 thyroid hormone resistance syndrome
甲状腺激素合成障碍 thyroid dyshormonogenesis
甲状腺继发性恶性肿瘤 thyroid secondary malignant tumor
甲状腺浆液性表面乳头状癌 serous surface papillary carcinoma of thyroid
甲状腺交界性肿瘤 borderline tumor of thyroid gland
甲状腺结核 thyroid tuberculosis
甲状腺开放性损伤 open injury of thyroid gland ［又称］开放性甲状腺损伤 △
甲状腺良性肿瘤 benign tumor of thyroid gland
甲状腺良性肿瘤癌变 carcinogenesis of benign thyroid tumor
甲状腺淋巴瘤 thyroid lymphoma
甲状腺滤泡癌 thyroid follcular carcinoma
甲状腺囊肿 thyroid cyst
甲状腺囊肿出血 hemorrhage of thyroid cyst
甲状腺脓肿 thyroid abscess
甲状腺区损伤 thyroid injury
甲状腺缺如 thyroid absence
甲状腺乳头状癌，滤泡性变异 papillary carcinoma of thyroid，follicular variant
甲状腺素结合球蛋白异常 abnormality of thyroxine binding globulin
甲状腺髓样癌伴有淀粉样变 medullary thyroid carcinoma associated with amyloidosis
甲状腺危象 thyroid storm
甲状腺微小恶性肿瘤 thyroid malignant micro-neoplasm
甲状腺微小乳头状癌 papillary microcarcinoma of thyroid
甲状腺萎缩 atrophy of thyroid
甲状腺无包膜硬化性癌 nonencapsulated sclerosing carcinoma of thyroid
甲状腺细粒棘球蚴病 thyroid echinococcosis granulosa
甲状腺纤维化 thyroid fibrosis
甲状腺血管瘤 thyroid hemangioma
甲状腺炎 thyroiditis
甲状腺炎性包块 thyroiditis mass
甲状腺原位癌 thyroid carcinoma in situ
甲状腺肿 goiter
甲状腺肿物 thyroid neoplasm
甲状腺锥体叶 thyroid pyramidal lobe
甲状腺锥体叶代偿性肿大 compensatory enlargement of thyroid gland pyramidal lobe
假性低醛固酮血症 pseudohypoaldosteronism ［又称］假性醛固酮减少症 △
假性低醛固酮血症Ⅰ型 pseudohypoaldosteronism typeⅠ
假性低醛固酮血症Ⅱ型 pseudohypoaldosteronism type Ⅱ ［又称］Gordon综合征 △
假性低醛固酮血症Ⅲ型 pseudohypoaldosteronism typeⅢ
假性甲状旁腺功能减退症 pseudohypoparathyroidism
假性甲状旁腺功能减退症Ⅰa型 pseudohypoparathyroidism typeⅠa
假性甲状旁腺功能减退症Ⅰb型 type Ⅰb pseudohypoparathyroidism
假性甲状旁腺功能减退症Ⅰc型 type Ⅰc pseudohypoparathyroidism
假性甲状旁腺功能减退症Ⅱ型 type Ⅱ pseudohypoparathyroidism
假性库欣综合征 pseudo-Cushing syndrome
假性软骨发育不良 pseudoachondroplasia ［又称］假性软骨发育不全 △
假性性早熟 pseudo-precocious puberty
坚硬发型门克病 steely hair Menkes disease
间脑综合征 diencephalic syndrome
间歇性库欣综合征 intermittent Cushing syndrome
肩部脂肪增多症 shoulder lipomatosis
睑黄瘤 xanthelasmata
降钙素分泌过多 overproduction of calcitonin
胶性结节甲状腺肿 colloidal nodular goiter
角膜弓 corneal arcus
脚气病 beriberi
结核性艾迪生病 tuberculous Addison’s disease ［又称］结核性阿狄森病 △
结节病导致的高钙血症 sarcoidosis-associated hypercalcemia
结节性黄瘤 xanthoma tuberosum ［又称］结节性黄色瘤 △
结节性甲状腺肿 nodular goiter
结节性甲状腺肿伴甲状腺功能亢进 nodular goiter with hyperthyroidism ［又称］结节性甲状腺肿伴甲状腺功能亢进症 △
结节性甲状腺肿累及气管 nodular goiter involving trachea
解偶联蛋白2（UCP2）突变所致的高胰岛素血症 hyperinsulinism caused by UCP2 mutation
进行性脂肪营养不良 progressive lipodystrophy ［又称］远心性脂肪营养不良 △
近端肾小管病-糖尿病-小脑性共济失调 proximal tubulopathydiabetes mellitus-cerebellar ataxia
经典单纯男性化型先天性肾上腺皮质增生症 classic simple masculine congenital adrenal cortical hyperplasia
经典失盐型先天性肾上腺皮质增生症 classic salt-wasting congenital adrenal cortical hyperplasia
精神性多饮 psychogenic polydipsia
颈部脂肪增多症 neck fat
痉挛性截瘫-性早熟 spastic paraplegia-precocious puberty
酒精性糙皮病 alcoholic pellagra ［又称］糙皮病 △
酒精性低血糖症 alcoholic hypoglycemia
局部溶骨性高钙血症 local osteolytic hypercalcemia
局部性肥胖症 local obesity ［又称］肥胖症 △
卡恩斯-塞尔综合征 Kearns-Sayre Syndrome，KSS
康恩综合征 Conn’s syndrome ［又称］Conn综合征 △
抗甲状腺药物不良反应 antithyroid drug adverse reaction
抗利尿激素不恰当分泌综合征 improperly secreted syndrome of antidiuretic hormone ［又称］抗利尿激素不适当分泌综合征 △
抗维生素D佝偻病 vitamin D resistant rickets ［又称］维生素D抵抗性佝偻病 △
抗雄激素综合征 androgen resistance syndrome
科里病 Cori disease
克罗斯综合征 Cross syndrome ［又称］克罗斯综合 △，Cross综合征 △，视交叉综合征 △
克山病 Keshan disease
空蝶鞍综合征 empty sella syndrome
空腹血糖受损 impaired fasting glucose，IFG
库欣综合征 Cushing syndrome
库欣综合征伴低钾血症 Cushing syndrome with hypokalemia
库欣综合征伴多种并发症 Cushing syndrome with multiple complications
库欣综合征伴肺部感染 Cushing syndrome with pulmonary infection
库欣综合征伴感染 Cushing syndrome with infection
库欣综合征伴高雄激素血症 Cushing syndrome with hyperandrogenism
库欣综合征伴高血压 Cushing syndrome with hypertension
库欣综合征伴骨折 Cushing syndrome with fracture
库欣综合征伴骨质疏松 Cushing syndrome with osteoporosis
库欣综合征伴精神障碍 Cushing syndrome with mental disorder
库欣综合征伴皮肤真菌感染 Cushing syndrome with cutaneous fungi infection
库欣综合征伴肾结石 Cushing syndrome with kidney stone
库欣综合征伴糖尿病 Cushing syndrome with diabetes mellitus
库欣综合征伴糖调节受损 Cushing syndrome with impaired glucose regulation
库欣综合征伴性腺功能减退症 Cushing syndrome with hypogonadism
库欣综合征伴血脂异常 Cushing syndrome with dyslipidemia
拉克囊肿 Racke cyst ［又称］拉克氏囊肿 △
莱迪希细胞发育不全 Leydig cell dysplasia
莱施-奈恩综合征 Lesch-Nyhan syndrome ［又称］莱施-尼汉综合征 △，Lesch-Nyhan综合征 △
赖分斯坦综合征 Reifenstein syndrome ［又称］赖芬斯坦综合征 △
朗格汉斯胰岛 Langerhans islet
类癌综合征 carcinoid syndrome ［又称］类癌及类癌综合征 △
类固醇激素合成急性调节蛋白缺陷症 steroidogenic acute regulatory protein deficiency
类似莫固综合征 similar Morquio’s syndrome
里德尔［木样］甲状腺炎 Liddell［wood kind］thyroiditis ［又称］里德尔甲状腺炎 △，木样甲状腺炎 △
锂盐中毒 lithium intoxication
立舍氏瘤/虹膜错构瘤 lisch nodule/iris hamartoma
利德尔综合征 Liddle syndrome ［又称］liddle综合征 △
良性颅咽管瘤 benign craniopharyngioma
临床症状不明显［亚临床］的碘缺乏性甲状腺功能减退症 subclinical Iodine deficiency hypothyroidism
淋巴瘤性甲状腺肿 struma lymphomatosa ［又称］淋巴细胞性甲状腺肿 △
淋巴细胞性垂体炎 lymphocytic hypophysitis
流行性腮腺炎并发甲状腺炎 mumps with thyroiditis
瘤样钙质沉着症 tumoral calcinosis
卵巢发育不良 ovarian dysgenesis
卵巢功能衰竭 ovarian functional failure
卵巢功能障碍 ovarian dysfunction
卵巢甲状腺肿 struma-ovarii
卵巢甲状腺肿类癌 struma carcinoid of ovary
卵巢门细胞瘤 hilar cell tumour of ovary
卵睾型性发育异常 ovotesticular disorder of sex development
卵磷脂胆固醇酰基转移酶缺乏症 lecithin cholesterol acyltransferase deficiency
卵泡膜细胞瘤 theca cell tumor
卵泡膜细胞增殖症 hyperthecosis
洛奴瓦-邦索德腺脂瘤病 Luonuwa-Bensaude adenolipomatosis
滤泡性甲状腺腺癌 follicular thyroid adenocarcinoma
马德龙病 Madelung’s disease
马凡样体型 marfanoid body habitus
麦卡德尔病 Mcardle disease
麦克拉伦型身材矮小症 McClaren type short stature ［又称］特发性身材矮小症 △
慢性甲状腺毒症性肌病 chronic thyrotoxic myopathy
慢性甲状腺炎 chronic thyroiditis
慢性甲状腺炎伴短暂性甲状腺毒症 chronic thyroiditis with transient thyrotoxicosis ［又称］慢性甲状腺炎伴有短暂性甲状腺毒症 △
慢性淋巴细胞性甲状腺炎 chronic lymphocytic thyroiditis
慢性尿酸肾病 chronic urate nephropathy
慢性侵袭性甲状腺炎 chronic invasive thyroiditis
慢性纤维性甲状腺炎 chronic fibrous thyroiditis
毛发纽结型门克病 hair knot type Menkes disease
免疫介导糖尿病 immune-mediated diabetes
面部脂肪增多症 facial lipomatosis
母体促甲状腺激素结合抑制性抗体通过胎盘所致先天性甲状腺功能减退症 congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibody
母体服用抗甲状腺药物所致的先天性甲状腺功能减退症 congenital hypothyroidism due to maternal intake of antithyroid drug
母体甲状腺功能减退症的婴儿 infant born to maternal hypothyroidism
母体甲状腺功能亢进症的婴儿 infant born to maternal hyperthyroidism
母源性先天性肾上腺发育不全 congenital adrenal hypoplasia of maternal cause
纳尔逊综合征 Nelson syndrome
男性迟发性性腺功能减退症 late onset hypogonadism in male
男性骨质疏松症 male osteoporosis
男性化肾上腺肿瘤 virilizing adrenal tumor
男性假两性畸形伴睾丸女性化 male pseudohermaphroditism with testicular feminization ［又称］睾丸女性化综合征 △，女性化综合征 △
男性肾上腺增生性性早熟 male adrenal hyperplasia with precocious puberty
男性同性性早熟 male isosexual precocious puberty
男性性腺功能减退症 male hypogonadism ［又称］性欲减退 △
男性性腺功能亢进症 male hypergonadism ［又称］性欲亢进 △
囊性甲状腺肿 cystic goiter
脑底异常血管网病-身材矮小症-面部畸形-低促性腺素性性功能减退症 moyamoya disease-short stature-facial dysmorphism-hypogonadotropic hypogonadism
脑-肺-甲状腺综合征 brain-lung-thyroid syndrome
脑耗盐综合征 cerebral salt wasting syndrome
脑外伤后尿崩症 diabetes insipidus after cerebral trauma ［又称］继发性中枢性尿崩症 △
内分泌-大脑-骨发育不良综合征 endocrine-cerebro-osteodysplasia syndrome
内分泌失调 endocrine disorder
内分泌腺恶性肿瘤 endocrine gland malignant tumor
内分泌腺交界性肿瘤 endocrine gland borderline tumor
内分泌腺良性肿瘤 endocrine gland benign tumor
黏多糖病性心肌病 glycosaminoglycan disease cardiomyopathy
黏多糖贮积性心脏病 mucopolysaccharide storage heart disease
黏多糖贮积症IS型 Scheie syndrome ［又称］黏脂贮积病Ⅰ型 △
黏膜神经瘤 mucosal neuroma
黏液水肿型地方性呆小病 myxedema endemic cretinism ［又称］粘液水肿型地方性呆小病 △
黏液水肿型先天性碘缺乏综合征 congenital iodine-deficiency syndrome，myxedematous type
黏液性水肿 mucous edema
黏液性水肿昏迷 myxedematous coma
尿崩症 diabetes insipidus
尿崩症-糖尿病-视神经萎缩-耳聋综合征 diabetes insipidusdiabetes mellitus-optic atrophy-deafness syndrome
尿酸性肾病 uric acid renal disease
尿酸性肾石病 uric acid nephrolithiasis
脲环代谢紊乱 metabolic disorder of urea cycle ［又称］尿素循环障碍 △
女性肾上腺性假两性畸形 female adrenal pseudohermaphroditism
女性同性性早熟 isosexual precocious puberty in girl
彭德莱综合征 Pendred syndrome ［又称］家族性呆小聋哑症 △，Pendred综合征 △
皮质醇抵抗综合征 glucocorticoid resistance syndrome
皮质醇增多症 hypercortisolism
葡萄糖激酶激活突变所致的高胰岛素血症 hyperinsulinism caused by glucokinase-activating mutation
铅性痛风 lead gout ［又称］铅中毒性痛风 △
桥本甲状腺炎 Hashimoto thyroiditis
切迪阿克-施泰因布林克-东综合征 Cheddiak-Steinbrink-east syndrome ［又称］Chediak-Steinbrinck-Higashi综合征 △
侵袭性垂体腺瘤 invasive pituitary adenoma
青春期疾病 disorder of puberty
青春期甲状腺肿 adolescent goiter
青春期乳房发育 adolescent mammoplasia
青春期延迟 delayed puberty
青少年白内障-小角膜-肾性糖尿综合征 syndrome of juvenile cataract-microcornea-renalglucosuria
青少年脑型肾上腺脑白质营养不良症 adolescent cerebral adrenoleukodystrophy
青少年特发性骨质疏松症 juvenile idiopathic osteoporosis
轻度马罗托-拉米综合征 mild Maroteau-Lamy syndrome
全垂体功能减退 total pituitary dysfunction ［又称］全垂体功能减退症 △
全身纤维囊性骨炎 systemic fibrous cystic osteitis ［又称］纤维囊性骨炎 △
全身性甲状腺激素抵抗综合征 generalized resistance to thyroid hormone
醛固酮分泌肾上腺皮质腺癌 aldosterone-producing adrenocortical carcinoma
醛固酮分泌腺瘤 aldosterone-producing adenoma，APA
醛固酮合成酶缺陷症 aldosterone synthase deficiency
醛固酮合成酶缺陷症Ⅰ型 aldosterone synthase deficiency type Ⅰ
醛固酮合成酶缺陷症Ⅱ型 aldosterone synthase deficiency type Ⅱ
醛固酮减少症 hypoaldosteronism
醛固酮增多症 hyperaldosteronism
醛固酮增多症性高血压 hypertension of hyperaldosteronism
妊娠伴甲状腺功能亢进症 pregnancy with hyperthyroidism
妊娠伴甲状腺功能障碍 pregnancy with thyroid dysfunction
妊娠伴甲状腺肿 pregnancy with goiter
妊娠伴亚临床甲状腺功能减退症 pregnancy with subclinical hypothyroidism
妊娠伴亚临床甲状腺功能亢进症 pregnancy with subclinical hyperthyroidism
妊娠哺乳相关骨质疏松症 pregnancy and lactation-associated osteoporosis
绒毛膜促性腺激素分泌肿瘤 human chorionic gonadotropin（HCG）secreting tumor
溶酶体酶翻译后变体缺陷 variant defect after lysosomal translation ［又称］溶酶体酶变性导致的家族性肾淀粉样变 △
溶酶体酸性脂肪酶缺乏症 lysosomal acid lipase deficiency
肉芽肿疾病导致的高钙血症 granuloma-induced hypercalcemia
肉芽肿性垂体炎 granulomatous hypophysitis
乳房早发育 premature thelarche ［又称］单纯性乳房早发育 △
乳糜微粒贮积-遗传性共济失调-白内障-侏儒-智力缺陷综合征 chylous accumulation-hereditary ataxia-cataract-dwarfism-mental deficiency syndrome
乳溢-闭经综合征 amenorrhea galactorrhea syndrome
软骨发育不良 hypochondroplasia
软骨发育不良-性发育障碍 chondro dysplasia-disorder of sex development
塞托利-莱迪希细胞瘤 Sertoli–Leydig cell tumor
三发性甲状腺功能减退症 tertiary hypothyroidism
散发性嗜铬细胞瘤/分泌型副神经节瘤 sporadic pheochromocytoma/secretory paraganglioma
色素性视网膜炎-垂体功能减退-肾结核-轻度骨骼发育不良综合征 retinitis pigmentosa-hypopituitarism-nephronophthisis-mild skeletal dysplasia syndrome
沙伊综合征/黏多糖贮积症Ⅰ型 Shay's syndrome/mucopolysaccharidosis，type Ⅰ
上肢骨囊性纤维性骨炎 upper limb bone cystic fibrous osteitis ［又称］纤维囊性骨炎 △
上肢脂肪增多症 upper limb lipomatosis
社会心理性矮小症 psychosocial dwarfism ［又称］精神社会性矮小症 △
摄入食物结构失衡 food intake imbalance ［又称］营养不良 △
身材矮小症 short stature
神经病型地方性呆小病 neuropathy type of endemic cretinism
神经病型先天性碘缺乏综合征 neuropathic congenital iodine def iciency syndrome
神经鞘脂贮积症 sphingolipidosis
神经纤维瘤病I型 neurofibromatosis I
肾功能损害引起的痛风 gout due to impairment of renal function
肾上腺出血 adrenal hemorrhage
肾上腺错构瘤 adrenal hamartoma
肾上腺恶性间质肿瘤 adrenal malignant stromal tumor
肾上腺恶性肿瘤 malignant neoplasm of adrenal gland
肾上腺钙化 adrenal calcification
肾上腺感染 adrenal infection
肾上腺坏死 adrenal necrosis
肾上腺继发恶性肿瘤 secondary malignant neoplasm of adrenal gland
肾上腺假性囊肿 adrenal false cyst
肾上腺交界性肿瘤 borderline tumor of adrenal gland ［又称］肾上腺交界恶性肿瘤 △
肾上腺结核病 adrenal tuberculosis ［又称］肾上腺结核 △
肾上腺结核致肾上腺皮质功能减退症 hypoadrenalism due to adrenal tuberculosis
肾上腺结节性增生 nodular hyperplasia of adrenal gland ［又称］肾上腺皮质结节样增生 △
肾上腺良性肿瘤 benign tumor of adrenal gland
肾上腺囊肿 adrenal cyst
肾上腺囊肿伴囊内出血 adrenal cyst with intracystic hemorrhage
肾上腺脑白质营养不良 adrenoleukodystrophy ［又称］艾迪生-席尔德综合征 △
肾上腺脓肿 adrenal abscess
肾上腺皮质癌 adrenocortical carcinoma
肾上腺皮质醇分泌腺瘤 cortisol-producing adrenocortical adenoma ［又称］CPA △
肾上腺皮质恶性肿瘤 adrenal cortical carcinoma
肾上腺皮质功能不全 adrenal insufficiency ［又称］肾上腺皮质功能减退症 △
肾上腺皮质功能亢进 hyperadrenocorticism ［又称］肾上腺皮质功能亢进症 △
肾上腺皮质酮分泌腺癌 adrenal corticosterone adenocarcinoma
肾上腺皮质酮分泌腺瘤 adrenal corticosterone adenoma
肾上腺皮质危象 adrenocortical crisis
肾上腺皮质萎缩 adrenocortical atrophy ［又称］特发性肾上腺萎缩 △
肾上腺皮质腺瘤 adrenocortical adenoma
肾上腺皮质增生 adrenocortical hyperplasia ［又称］肾上腺皮质增生症 △
肾上腺平滑肌肉瘤 adrenal leiomyosarcoma
肾上腺切除术后醛固酮减少症 hypoaldosteronism after adrenalectomy
肾上腺去氧皮质酮分泌腺癌 deoxycorticosterone-producing adrenocortical adenocarcinoma
肾上腺去氧皮质酮分泌腺瘤 deoxycorticosterone-producing adrenocortical adenoma
肾上腺神经节神经母细胞瘤 adrenal ganglion neuroblastoma
肾上腺神经母细胞瘤 adrenocortical neuroblastoma
肾上腺神经鞘瘤 adrenal schwannoglioma
肾上腺神经纤维瘤 adrenal neurofibroma
肾上腺栓塞 adrenal embolism
肾上腺髓样脂肪瘤 adrenal myelolipoma
肾上腺髓质恶性肿瘤 adrenomedullary carcinoma
肾上腺髓质功能亢进 adrenomedullary hyperfunction
肾上腺髓质神经病 adrenomyeloneuropathy ［又称］AMN △
肾上腺髓质增生症 adrenal medulla hyperplasia ［又称］肾上腺髓质增生 △
肾上腺损伤 adrenal injure
肾上腺危象 adrenal crisis
肾上腺无功能皮质癌 nonfunctional adrenocortical carcinoma
肾上腺无功能皮质腺瘤 nonfunctional adrenocortical adenoma
肾上腺性征综合征 adrenogenital syndrome
肾上腺血管瘤 adrenal hemangioma
肾上腺血肿 adrenal hematoma
肾上腺炎 adrenal gland inflammation
肾上腺早发育 premature adrenarche
肾上腺增生 adrenal hyperplasia ［又称］原发性肾上腺增生 △，单侧肾上腺增生 △
肾上腺脂肪瘤 adrenal lipoma
肾上腺肿物 adrenal mass ［又称］肾上腺占位 △
肾上腺转移癌 metastatic adrenal carcinoma
肾小管酸中毒性骨病 renal tubular acidosis osteopathy
肾性糖尿 renal glycosuria
生理性高催乳素血症 physiological hyperprolactinemia
生理性男性乳房发育症 physiological gynecomastia
生长激素不敏感综合征 growth hormone insensitivity syndrome
生长激素缺乏性侏儒症 growth hormone deficiency dwarfism ［又称］生长激素异常致身材矮小 △
生长激素缺乏症 growth hormone deficiency
生长激素释放激素瘤 GRFoma ［又称］生长激素释放因子瘤 △
生长抑素瘤 somatostatinoma
施密特综合征 Schmidt syndrome ［又称］自身免疫性多内分泌腺综合征（Ⅱ型）
湿脚气 wet beriberi ［又称］脚气病 △
视-隔发育不良 septo-optic dysplasia
嗜铬细胞瘤 pheochromocytoma
嗜铬细胞瘤伴肠梗阻 pheochromocytoma associated with intestinal obstruction
嗜铬细胞瘤伴肠缺血 pheochromocytoma associated with intestinal ischemia
嗜铬细胞瘤伴多种并发症 pheochromocytoma associated with multiple complications
嗜铬细胞瘤伴儿茶酚胺心肌病 pheochromocytoma with catecholamine cardiomyopathy
嗜铬细胞瘤伴肺水肿 pheochromocytoma associated with pulmonary edema
嗜铬细胞瘤伴冠心病 pheochromocytoma associated with coronary heart disease
嗜铬细胞瘤伴慢性肾病 pheochromocytoma associated with chronic kidney disease
嗜铬细胞瘤伴脑病 pheochromocytoma associated with cerebropathy
嗜铬细胞瘤伴脑血管病 pheochromocytoma with cerebrovascular disease
嗜铬细胞瘤伴皮肤溃疡 pheochromocytoma associated with cutaneous ulcer
嗜铬细胞瘤伴视网膜病变 pheochromocytoma associated with retinopathy
嗜铬细胞瘤伴糖尿病 pheochromocytoma with diabetic mellitus
嗜铬细胞瘤伴主动脉夹层 pheochromocytoma associated with aortic dissection
嗜铬细胞瘤危象 pheochromocytoma crisis
嗜碱性腺瘤 basophilic adenoma
嗜酸-嗜碱性腺瘤 eosinophilic and basophilic adenoma ［又称］混合性嗜酸细胞-嗜碱细胞腺瘤 △
嗜酸性腺瘤 eosinophilic adenoma ［又称］嗜酸细胞瘤 △
手术后垂体功能减退症 postoperative hypopituitarism
手术后低胰岛素血症 postoperative hypoinsulinemia
手术后甲状旁腺功能减退症 postoperative hypoparathyroidism
手术后甲状腺出血 postoperative thyroid hemorrhage
手术后甲状腺功能减退 postoperative hypothyroidism ［又称］手术后甲状腺功能减退症 △
手术后甲状腺瘘 postoperative thyroid fistula
手术后尿崩症 postoperative diabetes insipidus
手术后肾上腺皮质功能减退 postoperative adrenal cortical dysfunction ［又称］手术后肾上腺皮质功能减退症 △
手术后胰腺外分泌功能不全 postoperative exocrine pancreatic insufficiency
手足搐搦 tetany
术后垂体功能减退症 postprocedural hypopituitarism
术后甲状旁腺功能减退症 postprocedural hypoparathyroidism
术后甲状腺功能减退 hypothyroidism after operation
术后肾上腺皮质功能减退 hypoadrenocorticism after operation
术后血内胰岛素不足 postprocedural hypoinsulinaemia
酸性脂酶缺乏症 Wolman disease ［又称］Wolman病 △
锁骨下碘缺乏相关性弥漫性甲状腺肿 diffuse goiter associated with subclavian iodine deficiency ［又称］碘缺乏相关性弥漫性锁骨下甲状腺肿 △
锁骨下甲状腺肿 subclavian goiter
碳酸酐酶Ⅱ缺乏 carbonic anhydrase Ⅱ deficiency
糖耐量受损伴肥胖型高血压 impaired glucose tolerance with obesity type hypertension
糖耐量受损伴高血压 impaired glucose tolerance with hypertension
糖耐量受损伴黑棘皮病或血脂异常高胰岛素血症或肥胖症 impaired glucose tolerance with acanthosis nigricans or dyslipidemia，or hyperinsulinemia，or obesity ［又称］黑棘皮病-胰岛素抵抗-肌痉挛-肢端肥大 △
糖耐量受损伴内脏脂肪沉积增加 impaired glucose tolerance with visceral fat deposition
糖耐量受损伴胰岛素抵抗 impaired glucose tolerance with insulin resistance
糖耐量受损伴周围血管病 impaired glucose tolerance with peripheral vascular disease
糖耐量受损伴周围血管病及坏疽 impaired glucose tolerance with peripheral vascular disease and gangrene
糖尿病 diabetes mellitus
糖尿病伴勃起功能障碍 diabetes with erectile dysfunction
糖尿病伴动脉粥样硬化 diabetes with atherosclerosis
糖尿病伴多并发症 diabetes with multiple complications
糖尿病伴反复低血糖发作 diabetes with recurrent hypoglycemia
糖尿病伴冠心病 diabetes with coronary heart disease
糖尿病伴肌病 diabetes with myopathy
糖尿病伴急性胰腺炎 diabetes with acute pancreatitis
糖尿病伴脊髓病 diabetes with myelopathy
糖尿病伴甲周毛细血管扩张 diabetes with periungual telangiectasia
糖尿病伴面部潮红 diabetes with rubeosis face
糖尿病伴脑血管疾病 diabetes with cerebrovascular disease
糖尿病伴逆行射精 diabetes with retrograde ejaculation
糖尿病伴女性性功能障碍 diabetes with female sexual dysfunction
糖尿病伴青光眼 diabetes with glaucoma
糖尿病伴缺血性心肌病 diabetes with ischemic cardiomyopathy
糖尿病伴乳酸性酸中毒 diabetes with lactic acidosis
糖尿病伴肾乳头坏死 diabetes with renal papillary necrosis
糖尿病伴体位性低血压 orthostatic hypotension in diabetes
糖尿病伴外周动脉闭塞症 diabetes with peripheral arterial occlusive disease
糖尿病伴腕管综合征 diabetes with carpal tunnel syndrome
糖尿病伴下肢动脉粥样硬化 diabetes with lower extremity atherosclerosis
糖尿病伴新生血管性青光眼 diabetes with neovascular glaucoma
糖尿病伴血糖控制不佳 diabetes with poor glycemic control
糖尿病大血管并发症 diabetes with macrovascular complication
糖尿病多发单神经病变 diabetic mononeuropathy multiplex
糖尿病高渗性高血糖状态 diabetes with hyperosmolar hyperglycemic state
糖尿病高渗性高血糖状态并昏迷 diabetes with hyperosmolar hyperglycemic state with coma
糖尿病高血糖状态昏迷 diabetic hyperglycemia coma
糖尿病泌尿生殖系统自主神经病变 diabetic genitourinary autonomic neuropathy
糖尿病牵拉性视网膜脱离 diabetic retinal traction detachment
糖尿病神经根神经丛病变 diabetes with radiculoplexus neuropathy
糖尿病神经性膀胱 diabetic cystopathy
糖尿病酮症 diabetic ketosis
糖尿病酮症酸中毒 diabetic ketoacidosis
糖尿病痛性神经病变 painful diabetic polyneuropathy
糖尿病胃肠道自主神经病变 diabetic gastrointestinal autonomic neuropathy
糖尿病性便秘 diabetic constipation
糖尿病性大疱病 diabetic bullae
糖尿病性低血糖 diabetic hypoglycemia
糖尿病性低血糖昏迷 diabetic hypoglycemic coma
糖尿病性低血糖性癫痫发作 diabetic hypoglycemic epilepsy seizure ［又称］糖尿病低血糖性癫痫发作 △
糖尿病性多发性微血管并发症 diabetic multiple microvascular complications
糖尿病性富尼埃（阴囊）坏疽 fournier's（scrotum）gangrene of diabetes
糖尿病性高渗性高血糖状态昏迷 diabetic high blood sugar coma
糖尿病性黑棘皮病或血脂异常或高胰岛素血症或肥胖症 diabetes with acanthosis nigricans or dyslipidemia or hyperinsulinemia or obesity ［又称］黑棘皮病-胰岛素抵抗-肌痉挛-肢端肥大综合征 △
糖尿病性坏疽 diabetic gangrene
糖尿病性黄斑水肿 diatetic macular edema
糖尿病性急性皮肤坏疽 diabetic acute sphaceloderma
糖尿病性溃疡 diabetic ulcer
糖尿病性曼莱尼坏疽 Manley diabetic gangrene
糖尿病性内脏脂肪沉积增加 diabetic increased visceral fat deposition
糖尿病性胚胎病 diabetic embryopathy
糖尿病性溶血性坏疽 diabetic hemolytic gangrene
糖尿病性乳酸性酸中毒和昏迷 diabetic lactic acidosis and coma
糖尿病性视网膜病变 diabetic retinopathy ［又称］糖尿病视网膜病 △
糖尿病性酮症酸中毒并昏迷 diabetic ketoacidosis with coma
糖尿病性酮症酸中毒和乳酸性酸中毒和昏迷 diabetic ketoacidosis and lactic acidosis and coma
糖尿病性细菌性坏疽 diabetic bacterial gangrene
糖尿病性下肢溃疡 diabetic lower limb ulcer
糖尿病性心血管自主神经病变 diabetic cardiac autonomic neuropathy
糖尿病性胰岛素抵抗 diabetic insulin resistance ［又称］胰岛素抵抗 △
糖尿病性异常出汗 diabetic sudomotor dysfunction
糖尿病性自主神经病变 diabetic autonomic neuropathy
糖尿病性足坏疽 diabetic foot gangrene
糖尿病性足溃疡和周围神经病 diabetic foot ulcer and peripheral neuropathy
糖尿病性足溃疡和周围血管病 diabetic foot ulcer and peripheral vascular disease
糖皮质激素不敏感综合征 glucocorticoid insensitivity syndrome
糖皮质激素撤退综合征 glucocorticoid withdrawal syndrome
糖皮质激素过度敏感综合征 glucocorticoid overly sensitive syndrome
糖皮质激素可抑制醛固酮增多症 glucocorticoid-remediable aldosteronism
糖皮质激素受体缺陷症 glucocorticoid receptor deficiency
糖原累积病 glycogen storage disease ［又称］糖原贮积病 △，糖原贮积症 △
糖原贮积症Ⅱ型 glucogen storage disease type Ⅱ，acid maltase def iciency，Pompe disease ［又称］糖原累积病Ⅱ型 △
特发性1型糖尿病 idiopathic type 1 diabetes
特发性低促性腺激素性性腺功能减退症 idiopathic hypogonadotropic hypogonadism
特发性肺棕色硬结症 idiopathic pulmonary hemosiderosis ［又称］特发性肺含铁血黄素沉积症 △
特发性高催乳素血症 idiopathic hyperprolactinemia
特发性高尿酸血症 idiopathic hyperuricemia
特发性甲状旁腺功能减退 idiopathic hypoparathyroidism ［又称］特发性甲状旁腺功能减退症 △
特发性男性乳房发育症 idiopathic gynecomastia
特发性醛固酮增多症 idiopathic hyperaldosteronism，IHA
特发性先天甲状腺功能减退症 idiopathic congenital hypothyroidism
特发性中枢性性早熟 idiopathic central precocious puberty
特殊类型糖尿病 specific type of diabetes
体质性巨人症 constitutional giant ［又称］巨人症 △
体质性身材矮小症 constitutional short stature
条纹状骨病 osteopathia striata
痛性肥胖病 adiposis dolorosa，Dercum’s disease ［又称］痛性肥胖症 △，痛性脂肪病 △，德尔肯病 △
臀部脂肪增多症 hip lipomatosis
外胚层发育不良-关节挛缩-糖尿病 ectodermaldysplasia-arthrogryposis-diabetes mellitus
外源性物质引起的甲状腺功能减退症 hypothyroidism due to exogenous substance
完全性中枢性尿崩症 complete central diabetes insipidus
维生素A缺乏后遗症 sequelae of vitamin A deficiency ［又称］维生素A缺乏病 △
维生素C缺乏后遗症 sequelae of vitamin C deficiency ［又称］维生素C缺乏症 △
维生素C缺乏症 vitamin C deficiency，scurvy ［又称］坏血病 △
维生素D过多症 hypervitaminosis D
维生素D缺乏 vitamin D deficiency
维生素D缺乏性佝偻病 vitamin D deficiency rickets
维生素D缺乏性骨软化症 vitamin D deficiency osteomalacia
维生素D依赖性佝偻病Ⅰ型 vitamin D dependent rickets type Ⅰ，pseudo vitamin D deficiency rickets
维生素D依赖性佝偻病Ⅱ型 vitamin D dependent rickets type Ⅱ
无β脂蛋白血症 abetalipoproteinemia ［又称］β-脂蛋白缺乏症 △，先天性β-脂蛋白缺乏症 △
无功能性胰岛细胞瘤 nonfunctional islet cell tumor
无甲状腺肿性先天性甲状腺功能减退症 congential hypothyroidism without goiter
无脉络膜-垂体功能减退症 choroideremia-hypopituitarism
无症状性高尿酸血症 asymptomatic hyperuricemia
希恩综合征 Sheehan syndrome ［又称］席汉氏综合征 △，垂体梗死 △
细胞色素b5（CYB5A）缺陷症 cytochrome b5（CYB5A）deficiency
下颌骨囊性纤维性骨炎 mandibular cystic fibrous osteitis
下丘脑性肥胖 hypothalamic obesity
下丘脑综合征 hypothalamic syndrome
下肢骨囊性纤维性骨炎 lower limb bone cystic fibrous osteitis
先天性垂体发育异常 congenital anomaly of pituitary
先天性垂体异位 congenital ectopic pituitary ［又称］垂体异位 △
先天性碘缺乏性甲状腺功能减退症 congenital iodine deficiency hypothyroidism
先天性碘缺乏综合征 congenital iodine deficiency syndrome
先天性碘缺乏综合征，黏液水肿型 congenital iodine deficiency syndrome，myxoedematous type
先天性碘缺乏综合征，神经病型 congenital iodine deficiency syndrome，neuropathic type
先天性非毒性甲状腺肿 congenital non toxic goiter
先天性甲状旁腺功能减退 congenital hypoparathyroidism ［又称］先天性甲状旁腺功能减退症 △
先天性甲状舌管瘘 congenital thyroglossal duct fistula
先天性甲状腺错构瘤 congenital thyroid hamartoma ［又称］甲状腺错构瘤 △
先天性甲状腺功能减退症 congenital hypothyroidism
先天性甲状腺功能减退症伴弥漫性甲状腺肿 congenital hypothyroidism associated with diffuse goiter ［又称］先天性甲状腺功能减退症伴有弥漫性甲状腺肿 △
先天性甲状腺功能减退症不伴甲状腺肿 congenital hypothyroidism without goiter
先天性甲状腺功能亢进症 congenital hyperthyroidism
先天性甲状腺萎缩 congenital atrophy of thyroid gland
先天性甲状腺异位 congenital ectopic thyroid gland ［又称］甲状腺异位 △
先天性甲状腺肿 congenital goiter
先天性肾上腺发育不良 congenital adrenal dysplasia ［又称］肾上腺发育不良 △
先天性肾上腺发育不良症 congenital adrenal hypoplasia
先天性肾上腺发育不全 adrenal hypoplasia congenita，AHC
先天性肾上腺皮质增生症 congenital adrenal cortical hyperplasia
先天性肾上腺异位 congenital ectopic adrenal gland ［又称］肾上腺异位 △
先天性实质的甲状腺肿 congenital parenchymal goiter
先天性胸腺发育不全 congenital thymic dysplasia ［又称］胸腺发育不全 △
先天性胸腺异位 congenital ectopic thymus ［又称］胸腺异位 △
先天性遗传代谢病 congenital genetic metabolic disease，congenital metabolic defect ［又称］先天性代谢缺陷 △
先天性阴茎畸形 congenital malformation of penis
嫌色细胞腺瘤 chromophobe adenoma
线粒体DNA缺失 mitochondrial DNA deletion ［又称］线粒体DNA缺失综合征，肾小管病 △
线粒体糖尿病 chondriosome diabetes
消耗性甲状腺功能减退症 consumptive hypothyroidism
消瘦性恶性营养不良病 wasting malignant malnutrition
小脑性共济失调-性腺功能减退 cerebellar ataxia-hypogonadism
小腿局限性肥胖 leg limitation obesity
小腿脂肪增多症 calf lipomatosis
心脏副神经节瘤 cardiac paraganglioma
新生儿短暂性糖尿病 transient neonatal diabetes mellitus
新生儿甲状腺毒症 neonatal thyrotoxicosis
新生儿甲状腺肿 neonatal goitre
新生儿乳房发育 neonatal gynecomastia
新生儿糖尿病 neonatal diabetes mellitus ［又称］自身免疫性低血糖症 △
新生儿永久性糖尿病 permanent neonatal diabetes mellitus ［又称］永久性新生儿糖尿病 △
新生儿暂时性低血糖症 transient neonatal hypoglycemia
新生儿重症甲状旁腺功能亢进症 neonatal severe hyperparathyroidism
性发育迟缓 sexual developmental delay ［又称］性发育障碍 △
性染色体性发育障碍 sex chromosome dysplasia
性染色体异常疾病 sex chromosomal abnormality
性早熟 sexual precosity
胸骨后碘缺乏相关性多结节性甲状腺肿 multiple nodular substernal goiter associated with iodine deficiency ［又称］碘缺乏相关性多结节性胸骨后甲状腺肿 △
胸骨后碘缺乏相关性弥漫性甲状腺肿 diffuse substernal goiter associated with iodine deficiency ［又称］碘缺乏相关性弥漫性胸骨后甲状腺肿 △
胸骨后甲状腺恶性肿瘤 substernal thyroid malignant neoplasm
胸骨后甲状腺良性肿瘤 benign tumor of substernal thyroid
胸骨后甲状腺囊肿 substernal thyroid cyst
胸骨后甲状腺肿 substernal goiter
胸骨后结节性甲状腺肿 substernal nodular goiter
雄激素不敏感综合征 androgen insensitivity symdrome
嗅觉减退-鼻眼发育不全-低促性腺激素性腺功能减退综合征 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism symdrome
嗅觉缺失-性腺功能减退征 olfactory deficiency and gonadal dysfunction syndrome，Calman's syndrome ［又称］卡尔曼综合征 △
许特尔细胞甲状腺瘤 Hurthle cell tumor of thyroid
许特尔细胞腺瘤 Huthle cell adenoma
选择性垂体甲状腺激素抵抗综合征 selective pituitary resistance to thyroid hormone symdrome
血管活性肠肽瘤 vasoactive intestinal peptide tumor
亚急性非化脓性甲状腺炎 subacute non suppurative thyroiditis
亚急性甲状腺炎 subacute thyroiditis ［又称］德奎尔万甲状腺炎 △
亚急性巨细胞型甲状腺炎 subacute giant cell thyroiditis ［又称］亚急性巨细胞性甲状腺炎 △
亚急性肉芽肿型甲状腺炎 subacute granulomatous thyroiditis ［又称］亚急性肉芽肿性甲状腺炎 △
亚临床甲状腺功能减退 subclinical hypothyroidism
亚临床甲状腺功能亢进症 subclinical hyperthyroidism
亚临床库欣综合征 subclinical Cushing syndrome
亚硫酸盐氧化酶缺乏症 sulfite oxidase deficiency ［又称］亚硫酸盐氧化酶缺乏 △
严重骨质疏松症 severe osteoporosis
严重营养不良 severe malnutrition
岩藻糖苷贮积症 fucosidosis ［又称］岩藻糖苷沉积症 △
盐丢失性先天性肾上腺增生 salt lost congenital adrenal hyperplasia ［又称］先天性肾上腺增生 △
盐皮质激素抵抗综合征 mineralocorticoid resistance syndrome
眼白化病 ocular albinism
眼睑眶隔脂肪增多症 orbital septal lipomatosis
眼睑蜀黍红斑 pellagra eyelid ［又称］睑糙皮病 △
眼-脑-肾综合征 eye-brain-renal syndrome. ［又称］ Lowe综合征 △，洛氏综合征 △
腰部脂肪增多症 waist lipomatosis
药物导致的高尿酸血症 drug-induced hyperuricemia
药物或化学制剂所致的糖尿病 drug or chemical induced diabetes mellitus
药物所致低血磷性骨软化症 drug-induced hypophosphatemic osteomalacia
药物所致佝偻病 drug-induced rickets
药物相关性高钙血症 drug-associated hypercalcemia
药物性垂体功能减退症 drug-induced hypopituitarism
药物性肥胖 drug-induced obesity
药物性和化学品性甲状腺毒症 drug and chemical induced thyrotoxicosis
药物性和化学品性甲状腺功能亢进 drug and chemical induced hyperthyroidism
药物性甲状腺功能减退 drug-induced hypothyroidism ［又称］药物性甲状腺功能减退症 △
药物性甲状腺功能亢进 drug-induced hyperthyroidism ［又称］药物性甲状腺功能亢进症 △
药物性甲状腺炎 drug-induced thyroiditis
药物性库欣综合征 drug-induced Cushing syndrome ［又称］药物性柯兴综合征 △
药物性痛风 drug-induced gout
药源性低血糖症 drug-induced hypoglycemia
药源性高催乳素血症 drug-induced hyperprolactinemia
药源性甲状腺炎 drug-induced thyroiditis
药源性醛固酮减少症 drug-induced hypoaldosteronism
药源性醛固酮增多症 drug-induced aldosteronism
药源性肾上腺皮质功能减退症 drug-induced adrenocortical hypofunction
腋部脂肪增多症 axillary lipomatosis
医源性垂体功能减退症 latrogenic hypopituitarism
医源性甲状腺功能减退 latrogenic hypothyroidism ［又称］医源性甲状腺功能减退症 △
医源性甲状腺功能亢进症 latrogenic hyperthyroidism
医源性甲状腺炎 latrogenic thyroiditis
医源性糖尿病 latrogenic diabetes mellitus
胰岛β细胞增生 islet beta cell hyperplasia
胰岛良性肿瘤 islet benign tumor
胰岛素抵抗综合征A型 insulin resistance syndrome type A
胰岛素抵抗综合征B型 insulin resistance syndrome type B
胰岛素瘤 insulinoma
胰岛素启动子-1基因突变导致的糖尿病 diabetes mellitus caused by insulin promotor-1 genetic mutation
胰岛素受体（INSR）突变所致的高胰岛素血症 hyperinsulinism caused by INSR mutation
胰岛素样生长因子1抵抗导致的生长延迟 growth delay due to insulin-like growth factor 1 resistance
胰岛素样生长因子1缺乏导致的生长延迟 growth delay due to insulin-like growth factor 1 deficiency
胰岛素自身免疫综合征 insulin autoimmune syndrome
胰岛细胞瘤 islet cell tumor
胰岛细胞增生症 nesidioblastosis
胰多肽瘤 pancreatic polypeptide-producing tumor
胰升糖素分泌过多 excessive secretion of glucagon
胰腺内分泌细胞增生 pancreatic endocrine cell hyperplasia
胰腺内分泌细胞增生伴胰升糖素过多 pancreatic endocrine cell hyperplasia with glucagon excess
胰腺神经内分泌肿瘤 pancreatic neuroendocrine tumor
胰腺生长激素释放激素分泌过多 excessive secretion of pancreatic growth hormone releasing hormone
胰腺生长抑素分泌过多 excessive secretion of pancreatic somatostatin
胰腺外分泌疾病导致的糖尿病 diabetes induced by disease of exocrine pancreas
胰腺无功能性神经内分泌肿瘤 nonfunctional pancreatic neuroendocrine tumor
胰腺血管活性肠肽分泌过多 excessive secretion of pancreatic vasoactive intestinal peptide
胰腺胰多肽分泌过多 pancreatic polypeptide secretion excess
遗传性低血磷性佝偻病 hereditary hypophosphatemic rickets
遗传性低血磷性骨软化 hereditary hypophosphatemic osteomalacia
遗传性高磷酸酶症 hereditary hyperphosphatasia
遗传性甲状腺素结合球蛋白异常 inherited abnormality of thyroxine binding globulin
遗传性卵巢癌综合征 hereditary ovarian cancer syndrome
遗传性毛细血管脆性 hereditary capillary fragility
遗传性暂时性先天性甲状腺功能减退症 hereditary transient congenital hypothyroidism
遗传综合征相关糖尿病 hereditary syndrome associated diabetes
异位ACTH综合征 ectopic ACTH syndrome
异位CRH综合征 ectopic CRH syndrome
异位垂体腺瘤 ectopic pituitary adenoma
异位促甲状腺激素分泌瘤 ectopic thyroid stimulating hormone secreting tumor
异位促肾上腺皮质激素分泌腺瘤 ectopic adrenocorticotropic hormone secreting adenoma
异位促肾上腺皮质激素释放激素综合征 ectopic corticotropin releasing hormone syndrome
异位促肾上腺皮质激素综合征 ectopic adrenocorticotropin syndrome ［又称］ACTH综合征 △
异位促性腺激素腺瘤 ectopic gonadotropic adenoma
异位催乳素综合征 ectopic prolactin syndrome
异位钙化 ectopic calcification
异位激素分泌综合征 ectopic hormone secretion syndrome
异位甲状旁腺功能亢进症 ectopic hyperparathyroidism
异位甲状旁腺良性肿瘤 ectopic parathyroid benign tumor
异位甲状腺恶性肿瘤 ectopic thyroid malignant neoplasm
异位甲状腺功能亢进症 ectopic hyperthyroidism
异位甲状腺良性肿瘤 ectopic thyroid benign tumor
异位甲状腺组织的甲状腺毒症 thyroid toxicity in ectopic thyroid tissue ［又称］异位甲状腺组织致甲状腺毒症 △
异位醛固酮分泌腺癌 ectopic aldosterone producing adenocarcinoma
异位醛固酮分泌腺瘤 ectopic aldosterone producing adenoma
异位人绒毛膜促性腺激素分泌肿瘤 ectopic human chorionic gonadotropin（HCG）secreting tumor
异位人绒毛膜促性腺激素综合征 ectopic human chorionic gonadotropin syndrome
异位肾上腺皮质腺癌 ectopic adrenal cortical adenocarcinoma
异位肾上腺皮质腺瘤 ectopic adrenal cortical adenoma
异位生长激素分泌瘤 ectopic growth hormone secreting tumor
异位生长激素释放激素分泌瘤 ectopic growth hormone releasing hormone secreting tumor
异位生长激素释放激素综合征 ectopic growth hormone releasing hormone syndrome
异位生长激素综合征 ectopic growth hormone syndrome
异位生长抑素瘤 ectopic somatostatinoma
异性性早熟 heterosexual precocious puberty
溢乳-闭经综合征 galactorrhea-amenorrhea syndrome
婴儿低血糖症 infant hypoglycemia
营养不良 malnutrition
营养不良性发育缓慢 slow development of malnutrition ［又称］继发于蛋白质-热能营养不良的发育迟缓 △
营养不良性身材矮小 malnutrition short stature
营养过度 excessive nutrition
营养过度后遗症 sequelae of hyperalimentation
营养缺乏 nutritional deficiency
营养缺乏后遗症 nutritional deficiency sequelae
营养性水肿 nutritional edema
营养性消瘦 nutritional marasmus
永久性新生儿糖尿病伴胰腺、小脑发育不全 permanent neonatal diabetes mellitus with pancreatic and cerebellar agenesis
幼年期缺碘性甲状腺肿 childhood iodine deficiency goiter
原发性高尿酸血症 primary hyperuricemia
原发性家族性黄瘤病 primary familial xanthomatosis
原发性甲状旁腺功能亢进症 primary hyperparathyroidism
原发性甲状旁腺功能亢进症伴高钙危象 primary hyperparathyroidism with hypercalcemia crisis
原发性甲状旁腺功能亢进症伴骨软化 primary hyperparathyroidism with osteomalacia
原发性甲状旁腺功能亢进症伴骨折 primary hyperparathyroidism with fracture
原发性甲状旁腺功能亢进症伴骨质疏松 primary hyperparathyroidism with osteoporosis
原发性甲状旁腺功能亢进症伴肾结石 primary hyperparathyroidism with nephrolithiasis
原发性甲状旁腺功能亢进症伴纤维囊性骨炎 primary hyperparathyroidism with osteitis fibrosa cystica
原发性甲状旁腺功能亢进症伴消化性溃疡 primary hyperparathyroidism with peptic ulcer
原发性甲状旁腺功能亢进症术后一过性甲状旁腺功能减退症 transient hypoparathyroidism after operation of primary hyperparathyroidism
原发性甲状腺功能减退 primary hypothyroidism ［又称］原发性甲状腺功能减退症 △
原发性甲状腺功能亢进 primary hyperthyroidism ［又称］原发性甲状腺功能亢进症 △
原发性醛固酮增多症 primary aldosteronism ［又称］低肾素性醛固酮增多症 △
原发性醛固酮增多症伴多种并发症 primary aldosteronism associated with multiple complications
原发性醛固酮增多症伴慢性肾病 primary aldosteronism with chronic kidney disease
原发性醛固酮增多症伴脑出血 primary aldosteronism with cerebral hemorrhage
原发性醛固酮增多症伴脑梗死 primary aldosteronism with cerebral infarction
原发性醛固酮增多症伴肾结石 primary aldosteronism with kidney stone
原发性醛固酮增多症伴视网膜病变 primary aldosteronism with retinopathy
原发性醛固酮增多症伴糖代谢异常 primary aldosteronism with dysglycaemia
原发性醛固酮增多症合并心肌肥大 primary aldosteronism with myocardial hypertrophy
原发性肉碱缺乏症 primary carnitine deficiency
原发性色素结节性肾上腺病 primary pigmentary nodular adrenal disease
原发性肾上腺皮质功能减退症 primary adrenocortical insufficiency，Addison’s disease ［又称］艾迪生病 △
原发性戊糖尿症 primary pentosuria ［又称］戊糖尿 △
原发性血脂异常 primary dyslipidemia
原发性侏儒 primary dwarf ［又称］原基性侏儒 △
远端指骨过短-发育畸形 brachy telephalangy-dysmorphism
运动诱发性高胰岛素血症 exercise-induced hyperinsulinism
早发性月经 early menstruation ［又称］月经早初潮 △
早老症 progeria
早熟性巨睾症 premature macroorchidism disease ［又称］巨睾症 △
真性性早熟 true precocious puberty
正常血钠性体液容量过多 humoral excess with normal serum sodium level
正确用药所致类固醇性糖尿病 steroid induced diabetes due to correct use of drug ［又称］类固醇性糖尿病 △
正确用药所致药物性皮质醇增多症 drug-induced hypercortisolism due to correct use of drug ［又称］皮质醇增多症 △，库欣综合征 △
肢端肥大症 acromegaly
肢端肥大症伴高血压 acromegaly associated with hypertension
肢端肥大症伴骨质疏松 acromegaly associated with osteoporosis
肢端肥大症伴糖耐量异常 acromegaly associated with impaired glucose tolerance
肢端肥大症伴糖尿病 acromegaly associated with diabetes
肢端肥大症伴心肌病变 acromegaly associated with cardiomyopathy
肢端肥大症伴心脏病 acromegaly associated with heart disease
肢端肥大症和垂体性巨人症 acromegaly and pituitary gigantism
脂沉积症 lipid storage disease ［又称］神经鞘脂贮积症 △
脂蛋白缺乏 lipoprotein deficiency
脂肪堆积 fat accumulation
脂肪过多症 lipomatosis
脂肪肉芽肿病 lipogranulomatosis
脂肪增多症 increased fat disease ［又称］盆腔脂肪综合征 △
脂酰辅酶A脱氢酶9缺陷症 Acyl-CoA dehydrogenase 9 deficiency
脂性乌尔巴赫蛋白沉积症 lipid Uhl Bach protein deposition
致密性成骨不全症 pyknodysostosis
致死性软骨发育不良 thanatophoric cartilaginous dysplasia
中度营养不良 moderate malnutrition ［又称］营养不良（中度） △
中间型DEND综合征 intermediate developmental delay，epilepsy and neonatal diabetes（DEND）syndrome
中枢神经病变引起性早熟 precocious puberty due to central nervous system lesion
中枢神经系统神经胶质瘤 central nervous system glioma
中枢性尿崩症 central diabetes insipidus
中枢性性早熟 central precocious puberty
肿瘤溶解综合征 tumor lysis syndrome
肿瘤性骨软化症 tumor-induced osteomalacia
肿瘤性骨软化症伴骨折 tumor-induced osteomalacia with fracture
重度蛋白质-热能营养不良 severe-protein energy malnutrition
重度肥胖症 severe obesity
重度肥胖症手术治疗后 postoperative status of severe obesity surgery
重度马罗托-拉米综合征 severe Maroteau-Lamy syndrome
重度营养不良伴消瘦 severe malnutrition with weight loss
周期性库欣综合征 periodic Cushing syndrome
周围性性早熟 peripheral sexual precocity
周围性性早熟继发中枢性性早熟 peripheral sexual precocity secondary to central sexual precocity
侏儒 dwarfism ［又称］侏儒综合征 △
转移性甲状腺乳头状癌 metastatic papillary thyroid carcinoma
转移性甲状腺乳头状癌，滤泡性变异 metastatic papillary thyroid carcinoma，follicular variant
自身免疫性多内分泌腺综合征（Ⅰ型） autoimmune polyendocrine gland syndrome，typeⅠ（APS-Ⅰ）
自身免疫性多内分泌腺综合征（Ⅱ型） autoimmune polyendocrine gland syndrome，typeⅡ（APS-Ⅱ），Schmidt syndrome ［又称］施密特综合征 △
自身免疫性多内分泌腺综合征（Ⅲ型） autoimmune polyendocrine gland syndrome（type Ⅲ）
自身免疫性多内分泌腺综合征（Ⅳ型） autoimmune polyendocrine gland syndrome（type Ⅳ）
自身免疫性多腺体衰竭 autoimmune polyglandular failure
自身免疫性甲状旁腺功能减退症 autoimmune hypoparathyroidism
自身免疫性甲状腺炎 autoimmune thyroiditis，Hashimoto disease ［又称］桥本病 △
自身免疫性甲状腺炎相关性激素反应性脑病 steroid-responsive encephalopathy associated with autoimmune thyroiditis ［又称］激素反应性脑病伴自身免疫甲状腺炎 △
自身免疫性肾上腺炎 autoimmune epinephritis ［又称］自身免疫性肾上腺炎致肾上腺皮质功能减退症 △
自主性卵巢滤泡囊肿 autonomous ovarian follicular cyst