Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness

Preferred Label : Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness;

ICD-11 definition : Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness is an inherited syndrome characterized by microcephaly, primary cutis verticis gyrata, progressive retinitis pigmentosa, cataracts, sensorineural deafness and intellectual deficit.;

Details

Origin ID

1711070831;

UMLS CUI

C1854061;

Currated CISMeF NLP mapping
- Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness [OMIM Phenotype]
- Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome [ORDO Disease]
- cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness [MeSH Supplementary Concept]
- cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness [OMIM Phenotype]
- Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome [ORDO Disease]
- cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness [MeSH concept]
- cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness [MeSH Supplementary Concept]

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