cerebellar ataxia ectodermal dysplasia

Preferred Label : cerebellar ataxia ectodermal dysplasia;

Définition CISMeF : 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.;

MeSH synonym : ectodermal dysplasia and cerebellar ataxia; cerebellar ataxia and ectodermal dysplasia;

Détails

Origin ID

C535350;

UMLS CUI

C1859306;

Currated CISMeF NLP mapping
- Cerebellar ataxia - ectodermal dysplasia [ICD-11 More detail]
- Cerebellar ataxia and ectodermal dysplasia [OMIM Phenotype]
- Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) [SNOMED CT concept]
- Cerebellar ataxia-ectodermal dysplasia syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- cerebellar ataxia [MeSH Descriptor]
- ectodermal dysplasia [MeSH Descriptor]
ORDO relation(s)
- Cerebellar ataxia-ectodermal dysplasia syndrome [ORDO Disease]
Record concept(s)
- Cerebellar ataxia ectodermal dysplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebellar ataxia - ectodermal dysplasia [ICD-11 More detail]
- Cerebellar ataxia and ectodermal dysplasia [OMIM Phenotype]
- Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) [SNOMED CT concept]
- Cerebellar ataxia-ectodermal dysplasia syndrome [ORDO Disease]

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