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363104002: Hereditary disorder of endocrine system (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1763650015 Hereditary disorder of endocrine system (disorder) en Fully specified name Active Case insensitive SNOMED CT core
1775969014 Hereditary disorder of endocrine system en Synonym Active Case insensitive SNOMED CT core

277 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of endocrine system Is a Disorder of endocrine system true Inferred relationship Some
Hereditary disorder of endocrine system Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of endocrine system Is a Congenital disease false Inferred relationship Some
Hereditary disorder of endocrine system Occurrence Congenital false Inferred relationship Some 1
Hereditary disorder of endocrine system Finding site Structure of endocrine system true Inferred relationship Some 1
Hereditary disorder of endocrine system Finding site Structure of endocrine system false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
X-linked acrogigantism Is a False Hereditary disorder of endocrine system Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Leydig cell agenesis Is a True Hereditary disorder of endocrine system Inferred relationship Some
Familial adrenal hypoplasia with absent pituitary luteinising hormone Is a True Hereditary disorder of endocrine system Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Autosomal recessive hyperinsulinism due to SUR1 deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Obesity due to leptin receptor gene deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Shwachman syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Renal hepatic pancreatic dysplasia Is a True Hereditary disorder of endocrine system Inferred relationship Some
Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Partial pancreatic agenesis Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
X-linked acrogigantism Is a False Hereditary disorder of endocrine system Inferred relationship Some
Leprechaunism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Partial androgen insensitivity syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Blepharophimosis-intellectual disability syndrome, SBBYS type Is a True Hereditary disorder of endocrine system Inferred relationship Some
Thymic, renal, anal, lung dysplasia syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Pseudohypoparathyroidism type I A Is a True Hereditary disorder of endocrine system Inferred relationship Some
Congenital pancreatic enterokinase deficiency Is a False Hereditary disorder of endocrine system Inferred relationship Some
Pancreatic triacylglycerol lipase deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hereditary pancreatitis Is a True Hereditary disorder of endocrine system Inferred relationship Some
Pancreatic colipase deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Diabetes mellitus AND insipidus with optic atrophy AND deafness Is a True Hereditary disorder of endocrine system Inferred relationship Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a True Hereditary disorder of endocrine system Inferred relationship Some
Diabetes-deafness syndrome maternally transmitted Is a True Hereditary disorder of endocrine system Inferred relationship Some
Insulin resistance - type A Is a True Hereditary disorder of endocrine system Inferred relationship Some
Syndrome of apparent mineralocorticoid excess Is a True Hereditary disorder of endocrine system Inferred relationship Some
Pseudohypoparathyroidism type 1C Is a True Hereditary disorder of endocrine system Inferred relationship Some
Cystic fibrosis of pancreas Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hereditary breast and ovarian cancer syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hereditary benign acanthosis nigricans with insulin resistance Is a True Hereditary disorder of endocrine system Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Perilipin 1 related familial partial lipodystrophy Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hyperandrogenism due to cortisone reductase deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Familial isolated hyperparathyroidism Is a True Hereditary disorder of endocrine system Inferred relationship Some
Familial nonmedullary thyroid carcinoma Is a True Hereditary disorder of endocrine system Inferred relationship Some
Diabetes mellitus co-occurrent and due to cystic fibrosis Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hereditary site-specific ovarian cancer syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
X-linked central congenital hypothyroidism with late-onset testicular enlargement Is a True Hereditary disorder of endocrine system Inferred relationship Some
Familial infantile gigantism Is a True Hereditary disorder of endocrine system Inferred relationship Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hypoinsulinemic hypoglycaemia and body hemihypertrophy Is a True Hereditary disorder of endocrine system Inferred relationship Some
Corticosteroid-binding globulin deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Woodhouse Sakati syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Dyshormonogenic goitre Is a True Hereditary disorder of endocrine system Inferred relationship Some
Polyglandular autoimmune syndrome, type 1 Is a True Hereditary disorder of endocrine system Inferred relationship Some
Progressive cerebellar ataxia with hypogonadism Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hyperproinsulinaemia Is a True Hereditary disorder of endocrine system Inferred relationship Some
Ovarioleucodystrophy Is a True Hereditary disorder of endocrine system Inferred relationship Some
Maturity onset diabetes of the young, type 2 Is a True Hereditary disorder of endocrine system Inferred relationship Some
Maturity onset diabetes of the young, type 1 Is a True Hereditary disorder of endocrine system Inferred relationship Some
Maturity-onset diabetes of the young, type 3 Is a True Hereditary disorder of endocrine system Inferred relationship Some
Maturity-onset diabetes of the young, type 5 Is a True Hereditary disorder of endocrine system Inferred relationship Some
Maturity-onset diabetes of the young, type 8 Is a True Hereditary disorder of endocrine system Inferred relationship Some
Maturity-onset diabetes of the young, type 10 Is a True Hereditary disorder of endocrine system Inferred relationship Some
Maturity-onset diabetes of the young, type 11 Is a True Hereditary disorder of endocrine system Inferred relationship Some
Panhypopituitarism - X-linked Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hypoparathyroidism - X-linked Is a True Hereditary disorder of endocrine system Inferred relationship Some
Kallman syndrome with heart disease Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hereditary growth hormone deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Is a True Hereditary disorder of endocrine system Inferred relationship Some
Sanjad Sakati syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Autosomal semi-dominant severe lipodystrophic laminopathy Is a True Hereditary disorder of endocrine system Inferred relationship Some
CIDEC-related familial partial lipodystrophy Is a True Hereditary disorder of endocrine system Inferred relationship Some
LIPE-related familial partial lipodystrophy Is a True Hereditary disorder of endocrine system Inferred relationship Some
PPARG-related familial partial lipodystrophy Is a True Hereditary disorder of endocrine system Inferred relationship Some
AKT2-related familial partial lipodystrophy Is a True Hereditary disorder of endocrine system Inferred relationship Some
MIRAGE syndrome Is a False Hereditary disorder of endocrine system Inferred relationship Some
4H leucodystrophy Is a True Hereditary disorder of endocrine system Inferred relationship Some
Microcephalic primordial dwarfism, insulin resistance syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
GCGR-related hyperglucagonaemia Is a True Hereditary disorder of endocrine system Inferred relationship Some
Congenital isolated adrenocorticotropic hormone deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
MIRAGE syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Alstrom syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
46,XX ovarian dysgenesis, short stature syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Familial hyperaldosteronism type 1 Is a True Hereditary disorder of endocrine system Inferred relationship Some
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Congenital leptin deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta Is a True Hereditary disorder of endocrine system Inferred relationship Some
Polyendocrine polyneuropathy syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Infantile multisystem neurologic, endocrine, pancreatic disease Is a True Hereditary disorder of endocrine system Inferred relationship Some
Inherited disorder of thyroid metabolism Is a True Hereditary disorder of endocrine system Inferred relationship Some
Glucocorticoid deficiency with achalasia Is a False Hereditary disorder of endocrine system Inferred relationship Some
Severe steroid 21-hydroxylase deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Transitory amino acid metabolic disorder Is a False Hereditary disorder of endocrine system Inferred relationship Some
Iodotyrosine deiodination defect Is a False Hereditary disorder of endocrine system Inferred relationship Some
Autosomal dominant variant form of albumin Is a False Hereditary disorder of endocrine system Inferred relationship Some
Neonatal iminoglycinuria Is a False Hereditary disorder of endocrine system Inferred relationship Some
Maturity onset diabetes mellitus in young Is a False Hereditary disorder of endocrine system Inferred relationship Some
Familial adrenocortical hypoplasia Is a True Hereditary disorder of endocrine system Inferred relationship Some
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a False Hereditary disorder of endocrine system Inferred relationship Some
Corticosterone 18-monooxygenase deficiency Is a False Hereditary disorder of endocrine system Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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