Hereditary disease

Autosomal hereditary disorder (disorder)
	Autosomal hereditary disorder
	autosomaal hereditaire aandoening
	autosomaal erfelijke aandoening autosomaal erfelijke ziekte

Id	1899006
Status	Primitive

ICD-10 complex map reference set

Target	Q99.9
Rule	TRUE
Advice	ALWAYS Q99.9
Correlation	SNOMED CT source code to target map code correlation not specified

2-hydroxyglutaric aciduria3

46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency

Acral dystrophic epidermolysis bullosa

Actin accumulation myopathy

Adams-Oliver syndrome

Adult hypophosphatasia

Aicardi Goutieres syndrome type 1

Amyotrophic lateral sclerosis type 12

APC-related attenuated familial adenomatous polyposis

Aplasia cutis congenita with epibulbar dermoid syndrome

Arrhythmogenic right ventricular dysplasia2

Autoimmune lymphoproliferative syndrome2

Autosomal dominant hereditary disorder967

Autosomal recessive hereditary disorder1444

Autosomal semi-dominant severe lipodystrophic laminopathy

Autosomal spastic paraplegia type 30

Autosomal spastic paraplegia type 72

Autosomal systemic lupus erythematosus

Bifid nose2

Bleeding diathesis due to collagen receptor defect

Blount disease

Brachyolmia4

Camptodactyly and tall stature with scoliosis and hearing loss syndrome

Cataract and microcornea syndrome

Central core disease2

Charcot-Marie-Tooth disease type 2P

Colobomatous microphthalmia, rhizomelic dysplasia syndrome

Combined malonic and methylmalonic aciduria

Congenital dystrophia brevicollis

Congenital fiber-type disproportion myopathy due to ACTA1 mutation2

Congenital fiber-type disproportion myopathy due to TPM3 mutation2

Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation

Congenital ichthyosis, microcephalus, tetraplegia syndrome

Congenital long QT syndrome7

Corticosteroid-binding globulin deficiency

Crigler-Najjar syndrome2

Deafness with onychodystrophy syndrome2

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

Distal arthrogryposis syndrome14

Distal muscular dystrophy18

Dystrophic epidermolysis bullosa nails only

Erythrokeratodermia variabilis

Erythropoietic protoporphyria4

Familial cerebral saccular aneurysm

Familial congenital mirror movements

Familial primary hypomagnesemia with normocalciuria1

Familial visceral neuropathy2

Female infertility due to oocyte meiotic arrest

Female infertility due to zona pellucida defect

Fibrochondrogenesis

Fundus albipunctatus

Genetic hyperferritinemia without iron overload

Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome

Hartsfield syndrome

Hereditary anetoderma

Hereditary clubbing

Hereditary gingival fibromatosis3

Hereditary glucocorticoid resistance

Hereditary hyperekplexia

Hereditary hypotrichosis simplex1

Hereditary isolated aplastic anemia

Hereditary spherocytosis3

HNSHA due to hexokinase deficiency

Hyperandrogenism due to cortisone reductase deficiency

Hyperbiliverdinemia

Hypodysfibrinogenemia

Hypomagnesemia co-occurrent with normocalciuria

Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome

Insulin resistance - type A

Intermediate nemaline myopathy

Isolated hereditary congenital facial paralysis

Ketoacidosis due to monocarboxylate transporter-1 deficiency

L-ferritin deficiency

Long QT syndrome type 10

Long QT syndrome type 11

Long QT syndrome type 12

Long QT syndrome type 13

Long QT syndrome type 2

Long QT syndrome type 3

Long QT syndrome type 4

Long QT syndrome type 5

Malignant migrating partial seizures of infancy

Matthew Wood syndrome

Megacystis, microcolon, hypoperistalsis syndrome

Non dystrophic myotonia

Omodysplasia2

Osteogenesis imperfecta type 5

Progressive cone-rod dystrophy

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome

Rare isolated myopia

Robinow syndrome2

Short stature due to growth hormone secretagogue receptor deficiency

Skin fragility, wooly hair, palmoplantar keratoderma syndrome

Transient bullous dermolysis of newborn

Treacher Collins syndrome

Trehalase deficiency

Typical nemaline myopathy

von Willebrand disease type 24

Waardenburg's syndrome5