CAPOS syndrome

Preferred Label : CAPOS syndrome;

CISMeF acronym : CAPOS;

MeSH synonym : cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss; CAPOS; cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss; cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss;

Details

Origin ID

C535351;

UMLS CUI

C1832466;

CISMeF manual mappings
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss [OMIM Phenotype]
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- cerebellar ataxia [MeSH Descriptor]
- foot deformities, congenital [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- optic atrophy [MeSH Descriptor]
- reflex, abnormal [MeSH Descriptor]
ORDO relation(s)
- Autosomal dominant optic atrophy plus syndrome [ORDO Disease]
Record concept(s)
- CAPOS syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant optic atrophy plus syndrome [ORDO Disease]
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss [OMIM Phenotype]
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) [SNOMED CT concept]
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [ORDO Disease]

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