Ataxia-telangiectasia-like disorder

Preferred Label : Ataxia-telangiectasia-like disorder;

ICD-11 definition : This is a rare, neurodegenerative, inherited disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease.;

ICD-11 synonym : ATLD - [Ataxia-telangiectasia-like disorder];

ICD-11 acronym : ATLD;

Details

Origin ID

242329289;

Automatic exact mappings (from CISMeF team)
- Ataxia-telangiectasia-like disorder [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Ataxia-Telangiectasia-Like Disorder 1 [NCIt concept]
- Ataxia-telangiectasia-like disorder [ORDO Disease]
- Ataxia-telangiectasia-like disorder (disorder) [SNOMED CT concept]
- Ataxia-telangiectasia-like disorder 1 [OMIM Phenotype]
- ataxia telangiectasia like disorder [MeSH Supplementary Concept]
- ataxia telangiectasia like disorder [MeSH concept]
See also inter- (CISMeF)
- MRE11 homolog, double strand break repair nuclease [ORDO Gene]
- MRE11 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients