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1899006: Autosomal hereditary disorder (disorder)

Status: current, Not 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
4277013 Autosomal hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4278015 Autosomal hereditary disorder, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
66691000077115 affection héréditaire autosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
688861000077115 affection héréditaire autosomique (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
746648015 Autosomal hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3144 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal hereditary disorder est un(e) (attribut) maladie héréditaire true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hyperbiliverdinaemia est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Autosomal systemic lupus erythematosus (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Rare isolated myopia est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Corticosteroid-binding globulin deficiency (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Deafness with onychodystrophy syndrome est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Autosomal spastic paraplegia type 72 est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 2P (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Bleeding diathesis due to collagen receptor defect est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Hereditary isolated aplastic anemia est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Hyperandrogenism due to cortisone reductase deficiency est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Malignant migrating partial seizures of infancy (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Familial congenital mirror movements est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Bifid nose (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Fibrochondrogenesis est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Megacystis, microcolon, hypoperistalsis syndrome est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Brachyolmia est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Treacher Collins syndrome est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Hereditary clubbing est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
von Willebrand disease type 2 est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Autoimmune lymphoproliferative syndrome est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Congenital long QT syndrome (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Arrhythmogenic right ventricular dysplasia (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
syndrome d'Adams-Oliver (trouble) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Blount disease est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Osteogenesis imperfecta type 5 (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Erythrokeratodermia variabilis est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Hypodysfibrinogenaemia est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Combined malonic and methylmalonic aciduria est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Progressive cone-rod dystrophy est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Female infertility due to oocyte meiotic arrest est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Trehalase deficiency est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome type 1 est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Typical nemaline myopathy est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Actin accumulation myopathy (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Intermediate nemaline myopathy est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
myopathie congénitale à "central cores" (trouble) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Amyotrophic lateral sclerosis type 1 est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Congenital fibre-type disproportion myopathy due to ACTA1 mutation est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Congenital fiber-type disproportion myopathy due to TPM3 mutation est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Familial cerebral saccular aneurysm (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 11 (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 10 (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 3 (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 12 (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 13 (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 4 (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 5 (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 2 (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
L-ferritin deficiency (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Familial visceral neuropathy est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Adult hypophosphatasia est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Distal arthrogryposis syndrome est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
syndrome de Crigler-Najjar (trouble) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
rétinite pigmentaire (trouble) est un(e) (attribut) False Autosomal hereditary disorder Inferred relationship Some
Childhood hypophosphatasia est un(e) (attribut) False Autosomal hereditary disorder Inferred relationship Some
Congenital dystrophia brevicollis (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
protoporphyrie érythropoïétique (trouble) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
hypophosphatasie infantile (trouble) est un(e) (attribut) False Autosomal hereditary disorder Inferred relationship Some
sphérocytose héréditaire est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Hereditary hollow viscus myopathy est un(e) (attribut) False Autosomal hereditary disorder Inferred relationship Some
Robinow syndrome est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Autosomal recessive hereditary disorder est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Non dystrophic myotonia (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Congenital dystrophia brevicollis est un(e) (attribut) False Autosomal hereditary disorder Inferred relationship Some
Hereditary gingival fibromatosis est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Autosomal dominant hereditary disorder est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
2-hydroxyglutaric aciduria est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Hereditary glucocorticoid resistance (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
hypomagnésémie primaire familiale avec normocalcurie est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder) est un(e) (attribut) False Autosomal hereditary disorder Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Bone dysplasia Azouz type (disorder) est un(e) (attribut) False Autosomal hereditary disorder Inferred relationship Some
Hypomagnesemia co-occurrent with normocalciuria (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Cataract and microcornea syndrome (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Matthew Wood syndrome est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Dystrophic epidermolysis bullosa nails only (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Hereditary hypotrichosis simplex (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Transient bullous dermolysis of newborn (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Hereditary hyperekplexia (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Omodysplasia (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
dystrophie musculaire distale est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Hereditary anetoderma (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Isolated hereditary congenital facial paralysis (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
epidermolyse bulleuse dystrophique dominante acrale est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
paraplégie spastique autosomique type 30 est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Insulin resistance - type A est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Best vitelliform macular dystrophy (disorder) est un(e) (attribut) False Autosomal hereditary disorder Inferred relationship Some
Fundus albipunctatus est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some
syndrome de Waardenburg (trouble) est un(e) (attribut) True Autosomal hereditary disorder Inferred relationship Some

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