Cerebellar ataxia with defective DNA repair

Preferred Label : Cerebellar ataxia with defective DNA repair;

Inclusion CIM-10 : Ataxia telangiectasia [Louis-Bar];

ICD-10 exclusion note : xeroderma pigmentosum (Q82.1); Cockayne's syndrome (Q87.1); other disorders of purine and pyrimidine metabolism (E79.-);

Diag associé à un acte (%) : 65.6;

CMA : 2;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

G113;

UMLS CUI

C0494451;

Excluded by
- Immunodeficiency associated with other major defects [ICD-10 category]
- Phakomatoses, not elsewhere classified [ICD-10 category]
- Polyglandular dysfunction [ICD-10 category]
ICD-10 exclusion(s)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Xeroderma pigmentosum [ICD-10 Sub-category]
Orphanet concepts
- Ataxia-oculomotor apraxia type 1 [ORDO Disease]
- Ataxia-telangiectasia [ORDO Disease]
- Ataxia-telangiectasia variant [ORDO Disease]
- Ataxia-telangiectasia-like disorder [ORDO Disease]
- Autosomal recessive cerebellar ataxia due to a DNA repair defect [ORDO Disease]
- PCNA-related progressive neurodegenerative photosensitivity syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebellar Ataxia with Defective DNA Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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