early-onset ataxia with oculomotor apraxia and hypoalbuminemia

Preferred Label : early-onset ataxia with oculomotor apraxia and hypoalbuminemia;

CISMeF acronym : EOCA-HA;

MeSH synonym : ataxia-oculomotor apraxia syndrome; early-onset cerebellar ataxia with hypoalbuminemia; ataxia-oculomotor apraxia 1; ataxia-telangiectasia-like syndrome; cerebellar ataxia, Early-Onset, with hypoalbuminemia; ataxia, Early-Onset, with oculomotor apraxia and hypoalbuminemia; ataxia, Adult-Onset, with oculomotor apraxia; Early-Onset ataxia with ocular motor apraxia and hypoalbuminemia;

Détails

Origin ID

C538013;

UMLS CUI

C1859598;

Currated CISMeF NLP mapping
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [OMIM Phenotype]
- Ataxia-Oculomotor Apraxia Type 1 [NCIt concept]
- Ataxia-oculomotor apraxia type 1 [ORDO Disease]
- Autosomal recessive ataxia with oculomotor apraxia type 1 [ICD-11 More detail]
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) [SNOMED CT concept]
- Early-onset ataxia with oculomotor apraxia and hypoalbuminaemia [ICD-11 More detail]
- ataxia with oculomotor apraxia type 1 [DO Concept]
MeSH term(s) associated for indexing
- apraxias [MeSH Descriptor]
- ataxia telangiectasia [MeSH Descriptor]
- cerebellar ataxia [MeSH Descriptor]
- hypoalbuminemia [MeSH Descriptor]
Record concept(s)
- Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [OMIM Phenotype]
- Ataxia-Oculomotor Apraxia Type 1 [NCIt concept]
- Ataxia-oculomotor apraxia type 1 [ORDO Disease]
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) [SNOMED CT concept]

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