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363104002: Hereditary disorder of endocrine system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
1775969014 Hereditary disorder of endocrine system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
482239011 Hereditary disorder of endocrine systen en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
754890018 Hereditary disorder of endocrine systen (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1763650015 Hereditary disorder of endocrine system (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1763650015 Hereditary disorder of endocrine system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1775969014 Hereditary disorder of endocrine system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1775969014 Hereditary disorder of endocrine system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6264271000241118 endocrinopathie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6264281000241116 affection endocrinienne héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6264291000241119 affection héréditaire du système endocrinien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6264271000241118 endocrinopathie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6264281000241116 affection endocrinienne héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6264291000241119 affection héréditaire du système endocrinien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

287 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of endocrine system (disorder) Is a Disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of endocrine system (disorder) Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of endocrine system (disorder) Finding site Structure of endocrine system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of endocrine system (disorder) Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of endocrine system (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary disorder of endocrine system (disorder) Finding site Structure of endocrine system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Severe steroid 21-hydroxylase deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Transitory amino acid metabolic disorder Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Iodotyrosine deiodination defect Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant variant form of albumin Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal iminoglycinuria Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maturity onset diabetes mellitus in young Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenocortical hypoplasia Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Corticosterone 18-monooxygenase deficiency Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
17 alpha-Hydroxyprogesterone aldolase deficiency Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Testosterone 17-beta-dehydrogenase deficiency Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Transient neonatal hyperglycinemia Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Steroid 21-monooxygenase deficiency, simple virilizing type Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
3 beta-Hydroxysteroid dehydrogenase deficiency Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Moderate steroid 21-hydroxylase deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
diabète insipide néphrogénique héréditaire Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Adrenoleukodystrophy Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant excess of transthyretin Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Benign neonatal hyperaminoaciduria Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary adrenal unresponsiveness to corticotropin Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary vitamin D dependency syndrome Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Transient neonatal hypertyrosinemia Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal hyperhistidinaemia Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pseudohypoaldosteronism, type 1, dominant form Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pseudohypoaldosteronism, type 1, recessive form Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Inherited disorder of thyroid metabolism Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glucocorticoid deficiency with achalasia Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multiple endocrine neoplasia, type 2b (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital adrenal hypoplasia, X-linked (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Simpson-Golabi-Behmel syndrome (disorder) Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
21-hydroxylase deficiency Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
WNT4 Mullerian aplasia and ovarian dysfunction Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
2-hydroxyglutaric aciduria Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Beckwith-Wiedemann syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multiple endocrine neoplasia, type 2 Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sotos' syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multiple endocrine neoplasia, type 1 Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial isolated pituitary adenoma Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperparathyroidism-jaw tumor syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypogonadism with prune belly syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital adrenal hyperplasia Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Homozygous methylenetetrahydrofolate reductase mutation Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Heterozygous methylenetetrahydrofolate reductase mutation (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypomagnesemia with secondary hypocalcemia (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprimary hyperaldosteronism (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypoaldosteronism Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Exercise-induced hyperinsulinism (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary glucocorticoid resistance Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Choroideremia co-occurrent with hypopituitarism Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism due to HNF4A deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism due to deficiency of glucokinase Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of leukotriene C4 synthase Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism and hyperammonaemia syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined pituitary hormone deficiency genetic form (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deafness and hypogonadism syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Van Esch type (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Cilliers type (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Primäre pigmentierte noduläre adrenokortikale Krankheit Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with precocious puberty and obesity syndrome Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder) Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder) Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, severe, circulatory system disease characterised by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus with obesity and hypogonadism syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism due to insulin receptor deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterised by hypoglycaemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Scholte syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypogonadism with anosmia Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bamforth Lazarus syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multinodular goiter, cystic kidney, polydactyly syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
SERKAL syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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