Early-onset ataxia with oculomotor apraxia and hypoalbuminemia

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

CISMeF acronym : EOCA-HA;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0532474;

UMLS CUI

C1859598;

Automatic exact mappings (from CISMeF team)
- Ataxia-telangiectasia syndrome (disorder) [SNOMED CT concept]
- ataxia-telangiectasia syndrome [SNOMED Notion]
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]
Related record
- early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MeSH Supplementary 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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