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1899006: Autosomal hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4277013 Autosomal hereditary disorder en Synonym Active Case insensitive SNOMED CT core
4278015 Autosomal hereditary disorder, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
746648015 Autosomal hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3207 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal hereditary disorder Is a Hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hyperbiliverdinaemia Is a True Autosomal hereditary disorder Inferred relationship Some
Autosomal systemic lupus erythematosus Is a True Autosomal hereditary disorder Inferred relationship Some
Rare isolated myopia Is a True Autosomal hereditary disorder Inferred relationship Some
Corticosteroid-binding globulin deficiency Is a True Autosomal hereditary disorder Inferred relationship Some
Deafness with onychodystrophy syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Autosomal spastic paraplegia type 72 Is a True Autosomal hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 2P Is a True Autosomal hereditary disorder Inferred relationship Some
Bleeding diathesis due to collagen receptor defect Is a True Autosomal hereditary disorder Inferred relationship Some
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary isolated aplastic anaemia Is a True Autosomal hereditary disorder Inferred relationship Some
Hyperandrogenism due to cortisone reductase deficiency Is a True Autosomal hereditary disorder Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Is a True Autosomal hereditary disorder Inferred relationship Some
Malignant migrating partial seizures of infancy Is a True Autosomal hereditary disorder Inferred relationship Some
Familial congenital mirror movements Is a True Autosomal hereditary disorder Inferred relationship Some
Bifid nose Is a True Autosomal hereditary disorder Inferred relationship Some
Fibrochondrogenesis Is a True Autosomal hereditary disorder Inferred relationship Some
Megacystis, microcolon, hypoperistalsis syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Brachyolmia Is a True Autosomal hereditary disorder Inferred relationship Some
Treacher Collins syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary clubbing Is a True Autosomal hereditary disorder Inferred relationship Some
von Willebrand disease type 2 Is a False Autosomal hereditary disorder Inferred relationship Some
Autoimmune lymphoproliferative syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Congenital long QT syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Arrhythmogenic right ventricular dysplasia Is a True Autosomal hereditary disorder Inferred relationship Some
Adams-Oliver syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Blount disease Is a True Autosomal hereditary disorder Inferred relationship Some
Osteogenesis imperfecta type 5 Is a True Autosomal hereditary disorder Inferred relationship Some
Erythrokeratodermia variabilis Is a True Autosomal hereditary disorder Inferred relationship Some
Hypodysfibrinogenaemia Is a True Autosomal hereditary disorder Inferred relationship Some
Combined malonic and methylmalonic aciduria Is a True Autosomal hereditary disorder Inferred relationship Some
Progressive cone-rod dystrophy Is a True Autosomal hereditary disorder Inferred relationship Some
Female infertility due to oocyte meiotic arrest Is a True Autosomal hereditary disorder Inferred relationship Some
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Trehalase deficiency Is a True Autosomal hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome type 1 Is a True Autosomal hereditary disorder Inferred relationship Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Typical nemaline myopathy Is a True Autosomal hereditary disorder Inferred relationship Some
Actin accumulation myopathy Is a True Autosomal hereditary disorder Inferred relationship Some
Intermediate nemaline myopathy Is a True Autosomal hereditary disorder Inferred relationship Some
Autosomal semi-dominant severe lipodystrophic laminopathy Is a True Autosomal hereditary disorder Inferred relationship Some
Central core disease Is a True Autosomal hereditary disorder Inferred relationship Some
Amyotrophic lateral sclerosis type 1 Is a True Autosomal hereditary disorder Inferred relationship Some
Congenital fibre-type disproportion myopathy due to ACTA1 mutation Is a True Autosomal hereditary disorder Inferred relationship Some
Congenital fibre-type disproportion myopathy due to TPM3 mutation Is a True Autosomal hereditary disorder Inferred relationship Some
Familial cerebral saccular aneurysm Is a True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 11 Is a True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 10 Is a True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 3 Is a True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 12 Is a True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 13 Is a True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 4 Is a True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 5 Is a True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 2 Is a True Autosomal hereditary disorder Inferred relationship Some
Ketoacidosis due to monocarboxylate transporter-1 deficiency Is a True Autosomal hereditary disorder Inferred relationship Some
L-ferritin deficiency Is a True Autosomal hereditary disorder Inferred relationship Some
Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation Is a True Autosomal hereditary disorder Inferred relationship Some
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Waardenburg Shah syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Myopathic Ehlers-Danlos syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary von Willebrand disease Is a True Autosomal hereditary disorder Inferred relationship Some
Familial visceral neuropathy Is a True Autosomal hereditary disorder Inferred relationship Some
Adult hypophosphatasia Is a True Autosomal hereditary disorder Inferred relationship Some
Distal arthrogryposis syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Crigler-Najjar syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Retinitis pigmentosa Is a False Autosomal hereditary disorder Inferred relationship Some
Childhood hypophosphatasia Is a False Autosomal hereditary disorder Inferred relationship Some
Congenital dystrophia brevicollis Is a True Autosomal hereditary disorder Inferred relationship Some
HNSHA due to hexokinase deficiency Is a True Autosomal hereditary disorder Inferred relationship Some
Erythropoietic protoporphyria Is a True Autosomal hereditary disorder Inferred relationship Some
Infantile hypophosphatasia Is a False Autosomal hereditary disorder Inferred relationship Some
Hereditary spherocytosis Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary hollow viscus myopathy Is a False Autosomal hereditary disorder Inferred relationship Some
Robinow syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Autosomal recessive hereditary disorder Is a True Autosomal hereditary disorder Inferred relationship Some
Non dystrophic myotonia Is a True Autosomal hereditary disorder Inferred relationship Some
Congenital dystrophia brevicollis Is a False Autosomal hereditary disorder Inferred relationship Some
Hereditary gingival fibromatosis Is a True Autosomal hereditary disorder Inferred relationship Some
Autosomal dominant hereditary disorder Is a True Autosomal hereditary disorder Inferred relationship Some
2-hydroxyglutaric aciduria Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary glucocorticoid resistance Is a True Autosomal hereditary disorder Inferred relationship Some
Familial primary hypomagnesaemia with normocalciuria Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary isolated hypoparathyroidism due to impaired parathormone secretion Is a False Autosomal hereditary disorder Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Bone dysplasia Azouz type Is a False Autosomal hereditary disorder Inferred relationship Some
Hypomagnesaemia co-occurrent with normocalciuria Is a True Autosomal hereditary disorder Inferred relationship Some
Cataract and microcornea syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Matthew Wood syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Dystrophic epidermolysis bullosa nails only Is a True Autosomal hereditary disorder Inferred relationship Some
Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary hypotrichosis simplex Is a True Autosomal hereditary disorder Inferred relationship Some
Toriello Lacassie Droste syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Transient bullous dermolysis of newborn Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary hyperekplexia Is a True Autosomal hereditary disorder Inferred relationship Some
Omodysplasia Is a True Autosomal hereditary disorder Inferred relationship Some
Distal muscular dystrophy Is a True Autosomal hereditary disorder Inferred relationship Some
Familial anetoderma Is a True Autosomal hereditary disorder Inferred relationship Some
Isolated hereditary congenital facial paralysis Is a True Autosomal hereditary disorder Inferred relationship Some
Acral dystrophic epidermolysis bullosa Is a True Autosomal hereditary disorder Inferred relationship Some
Autosomal spastic paraplegia type 30 Is a True Autosomal hereditary disorder Inferred relationship Some
Insulin resistance - type A Is a True Autosomal hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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