Cerebellar ataxia - ectodermal dysplasia

Preferred Label : Cerebellar ataxia - ectodermal dysplasia;

ICD-11 definition : Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.;

Details

Origin ID

2062907441;

UMLS CUI

C1859306;

Currated CISMeF NLP mapping
- Cerebellar ataxia and ectodermal dysplasia [OMIM Phenotype]
- Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) [SNOMED CT concept]
- Cerebellar ataxia ectodermal dysplasia [MeSH concept]
- Cerebellar ataxia-ectodermal dysplasia syndrome [ORDO Disease]
- cerebellar ataxia ectodermal dysplasia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebellar ataxia and ectodermal dysplasia [OMIM Phenotype]
- Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) [SNOMED CT concept]
- Cerebellar ataxia ectodermal dysplasia [MeSH concept]
- Cerebellar ataxia-ectodermal dysplasia syndrome [ORDO Disease]
- cerebellar ataxia ectodermal dysplasia [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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