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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 Reference Sets
1763650015 Hereditary disorder of endocrine system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1775969014 Hereditary disorder of endocrine system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

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

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