363104002: Hereditary disorder of endocrine system (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)
\Disorder of body system\Disorder of endocrine system\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:

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 (disorder)	false	Inferred relationship	Some
Hereditary disorder of endocrine system (disorder)	Occurrence	Congenital	false	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
juvenil diabetes mellitus med debut i vuxen ålder	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	False	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 hyperaminosyrauri	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
ärftligt D-vitaminberoendesyndrom	Is a	False	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	False	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
brist på 21-hydroxylas	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
koroideremi samtidig med hypopituitarism	Is a	False	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
syndrom med X-bunden intellektuell funktionsnedsättning, för tidig pubertet och fetma	Is a	False	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	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder)	Is a	True	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	False	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	False	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	True	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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Id	Description	Lang	Type	Status	Case?	Module
482239011	Hereditary disorder of endocrine systen	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
754890018	Hereditary disorder of endocrine systen (disorder)	en	Fully specified name	Inactive	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	Entire term case insensitive (core metadata concept)	SNOMED CT core
1915661000052113	ärftlig sjukdom i endokrina systemet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)