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363104002: Hereditary disorder of endocrine system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

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 Existential restriction modifier
Hereditary disorder of endocrine system Is a Hereditary disorder by system true Inferred relationship Existential restriction modifier
Hereditary disorder of endocrine system Finding site Structure of endocrine system false Inferred relationship Existential restriction modifier
Hereditary disorder of endocrine system Is a Congenital disease false Inferred relationship Existential restriction modifier
Hereditary disorder of endocrine system Occurrence Congenital false Inferred relationship Existential restriction modifier 1
Hereditary disorder of endocrine system Finding site Structure of endocrine system true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Severe steroid 21-hydroxylase deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Transitory amino acid metabolic disorder Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Iodotyrosine deiodination defect Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Autosomal dominant variant form of albumin Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Neonatal iminoglycinuria Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Maturity onset diabetes mellitus in young Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Familial adrenocortical hypoplasia Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Corticosterone 18-monooxygenase deficiency Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
17 alpha-Hydroxyprogesterone aldolase deficiency Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Testosterone 17-beta-dehydrogenase deficiency Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Transient neonatal hyperglycinemia Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Steroid 21-monooxygenase deficiency, simple virilizing type Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
3 beta-Hydroxysteroid dehydrogenase deficiency Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Moderate steroid 21-hydroxylase deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hereditary nephrogenic diabetes insipidus Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Adrenoleukodystrophy Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Autosomal dominant excess of transthyretin Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Benign neonatal hyperaminoaciduria Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hereditary adrenal unresponsiveness to corticotropin Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hereditary vitamin D dependency syndrome Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Transient neonatal hypertyrosinemia Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Neonatal hyperhistidinemia Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Pseudohypoaldosteronism, type 1, dominant form Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Pseudohypoaldosteronism, type 1, recessive form Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Inherited disorder of thyroid metabolism Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Glucocorticoid deficiency with achalasia Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Multiple endocrine neoplasia, type 3 Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Congenital adrenal hypoplasia, X-linked Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Simpson-Golabi-Behmel syndrome Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
21-hydroxylase deficiency Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
WNT4 Müllerian aplasia and ovarian dysfunction Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
2-hydroxyglutaric aciduria Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Beckwith-Wiedemann syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Multiple endocrine neoplasia, type 2 Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Sotos' syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Multiple endocrine neoplasia, type 1 Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Familial isolated pituitary adenoma Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hyperparathyroidism-jaw tumor syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hypogonadism with prune belly syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Congenital adrenal hyperplasia Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Homozygous methylenetetrahydrofolate reductase mutation Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Heterozygous methylenetetrahydrofolate reductase mutation Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hypomagnesemia with secondary hypocalcemia Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Pseudoprimary hyperaldosteronism Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Familial aldosterone deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Exercise-induced hyperinsulinism Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hereditary glucocorticoid resistance Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Choroideremia co-occurrent with hypopituitarism Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hyperinsulinism due to deficiency of glucokinase Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Deficiency of leukotriene C4 synthase Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hyperinsulinism and hyperammonemia syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Combined pituitary hormone deficiency genetic form Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Familial thyroid dyshormonogenesis Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hypothyroidism due to mutation in transcription factor of pituitary development Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Deafness and hypogonadism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
X-linked intellectual disability Van Esch type Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
X-linked intellectual disability Cilliers type Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability type 7 Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Primary pigmented nodular adrenocortical disease Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Primary hypergonadotropic hypogonadism and partial alopecia syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
X-linked intellectual disability with precocious puberty and obesity syndrome Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
X-linked intellectual disability with acromegaly and hyperactivity syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hereditary isolated hypoparathyroidism due to impaired parathormone secretion Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Short stature, pituitary and cerebellar defect and small sella turcica syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Lymphedema hypoparathyroidism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hydrocephalus with obesity and hypogonadism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hyperinsulinism due to insulin receptor deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hyperinsulinism due to uncoupling protein 2 deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hypergonadotropic hypogonadism with cataract syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Intellectual disability, balding, patella luxation, acromicria syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hypogonadism with anosmia Is a False Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Bamforth Lazarus syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Paraganglioma and gastric stromal sarcoma syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Endocrine-cerebro-osteodysplasia syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Multinodular goiter, cystic kidney, polydactyly syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Sex reversion, kidney, adrenal and lung dysgenesis syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier

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