Camptodactyly - tall stature - scoliosis - hearing loss

Preferred Label : Camptodactyly - tall stature - scoliosis - hearing loss;

ICD-11 definition : Camptodactyly - tall stature - scoliosis - hearing loss syndrome is a genetic condition characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL).;

Details

Origin ID

1264975995;

UMLS CUI

C1864852;

Currated CISMeF NLP mapping
- CATSHL syndrome [MeSH concept]
- CATSHL syndrome [MeSH Supplementary Concept]
- Camptodactyly, tall stature, and hearing loss syndrome [OMIM Phenotype]
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CATSHL syndrome [MeSH concept]
- CATSHL syndrome [MeSH Supplementary Concept]
- Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) [SNOMED CT concept]
- Camptodactyly, tall stature, and hearing loss syndrome [OMIM Phenotype]
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome [ORDO Disease]
- camptodactyly-tall stature-scoliosis-hearing loss syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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