Hereditary disorder of endocrine system

Code	`363104002`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020131

6988700082-hydroxyglutaric aciduria disorder

123734500246,XX ovarian dysgenesis, short stature syndrome disorder

78309200546,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency disorder

72504500446,XY partial gonadal dysgenesis disorder

12089330004H leucodystrophy disorder

1197746001AKT2-related familial partial lipodystrophy disorder

718715007Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome disorder

65389002Adrenoleucodystrophy disorder

763311001Adrenomyodystrophy disorder

720981000Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome disorder

770941005Alopecia, progressive neurological defect, endocrinopathy syndrome disorder

63702009Alstrom syndrome disorder

12313004Androgen resistance syndrome disorder

720519003Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome disorder

722288007Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome disorder

1296914004Autosomal dominant hereditary vasopressin deficiency disorder

717045004Autosomal dominant hyperinsulinism due to Kir6.2 deficiency disorder

717046003Autosomal dominant hyperinsulinism due to SUR1 deficiency disorder

1296915003Autosomal recessive hereditary arginine vasopressin deficiency disorder

783768006Autosomal recessive hyperinsulinism due to Kir6.2 deficiency disorder

783767001Autosomal recessive hyperinsulinism due to SUR1 deficiency disorder

1197747005Autosomal semi-dominant severe lipodystrophic laminopathy disorder

722375007Bamforth Lazarus syndrome disorder

81780002Beckwith-Wiedemann syndrome disorder

715984007Boucher Neuhäuser syndrome disorder

1197749008CIDEC-related familial partial lipodystrophy disorder

722377004Carney Stratakis syndrome disorder

1281843005Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome disorder

776204008Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome disorder

718182008Combined pituitary hormone deficiency genetic form disorder

237751000Congenital adrenal hyperplasia disorder

237764004Congenital adrenal hypoplasia, X-linked disorder

722378009Congenital cataract with deafness and hypogonadism syndrome disorder

725462002Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency disorder

1231283007Congenital isolated adrenocorticotropic hormone deficiency disorder

700150001Congenital leptin deficiency disorder

715429006Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome disorder

773728004Corticosteroid-binding globulin deficiency disorder

235978006Cystic fibrosis of pancreas disorder

718714006Deafness and hypogonadism syndrome disorder

773664005Deficiency in anterior pituitary function, variable immunodeficiency syndrome disorder

717185008Deficiency of leukotriene C4 synthase disorder

427089005Diabetes mellitus due to cystic fibrosis disorder

783741006Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency disorder

783740007Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency disorder

719451006Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome disorder

190304001Dyshormonogenic goitre disorder

723309006Endocrine-cerebro-osteodysplasia syndrome disorder

715830008Exercise-induced hyperinsulinism disorder

782917007Familial adrenal hypoplasia with absent pituitary luteinising hormone disorder

37495007Familial adrenocortical hypoplasia disorder

703231005Familial hyperaldosteronism disorder

763715007Familial hyperprolactinaemia disorder

715343000Familial hypoaldosteronism disorder

773645004Familial infantile gigantism disorder

786037006Familial isolated hyperparathyroidism disorder

725036000Familial isolated hypoparathyroidism disorder

702375004Familial isolated pituitary adenoma disorder

725295005Familial male-limited precocious puberty disorder

1279836009Familial multinodular goitre syndrome disorder

716743006Familial non-autoimmune autosomal dominant hyperthyroidism disorder

786038001Familial nonmedullary primary thyroid carcinoma disorder

716657000Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome disorder

1187040004Familial steroid-resistant nephrotic syndrome with adrenal insufficiency disorder

718183003Familial thyroid dyshormonogenesis disorder

725029001Frontonasal dysplasia with alopecia and genital anomaly syndrome disorder

1228875006GCGR-related hyperglucagonaemia disorder

71974009Hereditary adrenal unresponsiveness to corticotropin disorder

237606005Hereditary benign acanthosis nigricans with insulin resistance disorder

718220008Hereditary breast and ovarian cancer syndrome disorder

715402001Hereditary glucocorticoid resistance disorder

1186807002Hereditary growth hormone deficiency disorder

68072000Hereditary pancreatitis disorder

139821000119102Heterozygous methylenetetrahydrofolate reductase mutation disorder

139811000119109Homozygous methylenetetrahydrofolate reductase mutation disorder

721231007Hydrocephalus with obesity and hypogonadism syndrome disorder

783696009Hyperandrogenism due to cortisone reductase deficiency disorder

721233005Hypergonadotropic hypogonadism with cataract syndrome disorder

718106009Hyperinsulinism and hyperammonaemia syndrome disorder

721234004Hyperinsulinism due to HNF1A deficiency disorder

717048002Hyperinsulinism due to HNF4A deficiency disorder

717182006Hyperinsulinism due to deficiency of glucokinase disorder

721235003Hyperinsulinism due to insulin receptor deficiency disorder

721236002Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency disorder

721834007Hyperinsulinism due to uncoupling protein 2 deficiency disorder

702378002Hyperparathyroidism-jaw tumour syndrome disorder

237613005Hyperproinsulinaemia disorder

236796004Hypogonadism with prune belly syndrome disorder

733113002Hypogonadotropic hypogonadism retinitis pigmentosa syndrome disorder

721842008Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome disorder

773665006Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome disorder

773666007Hypoinsulinemic hypoglycaemia and body hemihypertrophy disorder

711151004Hypomagnesaemia with secondary hypocalcaemia disorder

724282009Hypoparathyroidism, deafness, renal disease syndrome disorder

773673002Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome disorder

718194004Hypothyroidism due to mutation in transcription factor of pituitary development disorder

1260450002Infantile multisystem neurologic, endocrine, pancreatic disease disorder

36985004Inherited disorder of thyroid metabolism disorder

764960005Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency disorder

237651005Insulin resistance - type A disorder

764959000Intellectual disability, myopathy, short stature, endocrine defect syndrome disorder

1197592001Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome disorder

1367660004Isolated familial medullary thyroid carcinoma disorder

758664007Isolated follicle stimulating hormone deficiency disorder

50855007Juvenile haemochromatosis disorder

722027009Kallman syndrome with heart disease disorder

1197751007LIPE-related familial partial lipodystrophy disorder

111307005Leprechaunism syndrome disorder

56212008Leydig cell agenesis disorder

721977007Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome disorder

721083007Lymphoedema hypoparathyroidism syndrome disorder

1234831009MIRAGE syndrome disorder

722459008Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome disorder

722380003Martsolf syndrome disorder

237619009Maternally inherited diabetes and deafness disorder

609562003Maturity onset diabetes of the young, type 1 disorder

237604008Maturity onset diabetes of the young, type 2 disorder

609577006Maturity-onset diabetes of the young, type 10 disorder

609578001Maturity-onset diabetes of the young, type 11 disorder

609570008Maturity-onset diabetes of the young, type 3 disorder

609572000Maturity-onset diabetes of the young, type 5 disorder

609575003Maturity-onset diabetes of the young, type 8 disorder

237617006Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness disorder

1220596009Microcephalic primordial dwarfism, insulin resistance syndrome disorder

733092009Microcephalus, hypergonadotropic hypogonadism, short stature syndrome disorder

60045007Moderate steroid 21-hydroxylase deficiency disorder

724097003Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome disorder

723409007Multinodular goitre, cystic kidney, polydactyly syndrome disorder

61808009Multiple endocrine neoplasia, type 2 disorder

61530001Multiple endocrine neoplasia, type 2b disorder

237611007Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus disorder

724093004Nephropathy, deafness, hyperparathyroidism syndrome disorder

771308008Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome disorder

785722006Obesity due to leptin receptor gene deficiency disorder

699298009Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant disorder

1156768008Ovarioleucodystrophy disorder

724576005P5PD developmental and epileptic encephalopathy disorder

1197745002PPARG-related familial partial lipodystrophy disorder

69478001Pancreatic colipase deficiency disorder

722206009Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome disorder

722207000Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome disorder

78960005Pancreatic triacylglycerol lipase deficiency disorder

719044008Partial pancreatic agenesis disorder

783616005Perilipin 1 related familial partial lipodystrophy disorder

724067006Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome disorder

237612000Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction disorder

1260449002Polyendocrine polyneuropathy syndrome disorder

11244009Polyglandular autoimmune syndrome, type 1 disorder

789063000Primary hyperaldosteronism, seizures, neurological abnormalities syndrome disorder

719275009Primary hypergonadotropic hypogonadism and partial alopecia syndrome disorder

724275005Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency disorder

782825008Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome disorder

782755007Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome disorder

230240004Progressive cerebellar ataxia with hypogonadism disorder

85880000Pseudohypoaldosteronism, type 1, dominant form disorder

91180009Pseudohypoaldosteronism, type 1, recessive form disorder

717792007Pseudohypoparathyroidism type 1C disorder

58833000Pseudohypoparathyroidism type I A disorder

707747007Pseudoprimary hyperaldosteronism disorder

734434007Pyridoxine-dependent developmental and epileptic encephalopathy disorder

723999009RHYNS syndrome disorder

763891005Renal hepatic pancreatic dysplasia disorder

724001005Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome disorder

724000006Retinohepatoendocrinologic syndrome disorder

723720008SERKAL syndrome disorder

1197148005Sanjad Sakati syndrome disorder

722002002Scholte syndrome disorder

722114007Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome disorder

15991002Severe steroid 21-hydroxylase deficiency disorder

766817004Short stature due to growth hormone secretagogue receptor deficiency disorder

763890006Short stature with delayed bone age due to thyroid hormone metabolism deficiency disorder

721072003Short stature, pituitary and cerebellar defect and small sella turcica syndrome disorder

89454001Shwachman syndrome disorder

75968004Sotos' syndrome disorder

732958004Spastic paraplegia with precocious puberty syndrome disorder

733072002Stimmler syndrome disorder

237770005Syndrome of apparent mineralocorticoid excess disorder

719160009Syndromic X-linked intellectual disability type 7 disorder

723555007Thymic, renal, anal, lung dysplasia syndrome disorder

733096007Thyrocerebrorenal syndrome disorder

50375007Thyroid hormone responsiveness defect disorder

1255271005Type 1 diabetes mellitus, central and peripheral neurodegeneration syndrome disorder

699275001WNT4 Mullerian aplasia and ovarian dysfunction disorder

70694009Wolfram syndrome disorder

734022008Wolfram-like syndrome disorder

816067005Woodhouse Sakati syndrome disorder

771510006X-linked central congenital hypothyroidism with late-onset testicular enlargement disorder

237655001X-linked hypoparathyroidism disorder

724276006X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome disorder

719013004X-linked intellectual disability Cilliers type disorder

718914002X-linked intellectual disability Van Esch type disorder

719826004X-linked intellectual disability with acromegaly and hyperactivity syndrome disorder

765471005X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome disorder

732246009X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency disorder

237683004X-linked panhypopituitarism disorder

1295529002Xp21 deletion syndrome disorder

Hereditary disorder of endocrine system

Parents (2)

Children (196)