CATSHL syndrome

Preferred Label : CATSHL syndrome;

MeSH synonym : camptodactyly, tall stature, and hearing loss syndrome;

Origin ID

C537975;

UMLS CUI

C1864852;

Automatic exact mappings (from CISMeF team)
- camptodactyly-tall stature-scoliosis-hearing loss syndrome [DO Concept]
Currated CISMeF NLP mapping
- Camptodactyly - tall stature - scoliosis - hearing loss [ICD-11 More detail]
- Camptodactyly, tall stature, and hearing loss syndrome [OMIM Phenotype]
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome [ORDO Disease]
DO Cross reference
- camptodactyly-tall stature-scoliosis-hearing loss syndrome [DO Concept]
MeSH term(s) associated for indexing
- bone diseases, developmental [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- hearing loss [MeSH Descriptor]
Record concept(s)
- CATSHL syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Camptodactyly - tall stature - scoliosis - hearing loss [ICD-11 More detail]
- 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]