santos mateus leal syndrome

Preferred Label : santos mateus leal syndrome;

MeSH note : Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness;

MeSH synonym : hirschsprung disease, deafness and polydactyly;

Details

Origin ID

C537235;

UMLS CUI

C2931452;

Automatic exact mappings (from CISMeF team)
- Hirschsprung disease - deafness - polydactyly [ICD-11 More detail]
Currated CISMeF NLP mapping
- Hirschsprung disease with deafness and polydactyly syndrome (disorder) [SNOMED CT concept]
- Hirschsprung disease with polydactyly, renal agenesis, and deafness [OMIM Phenotype]
- Hirschsprung disease-deafness-polydactyly syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- hearing loss, central [MeSH Descriptor]
- hirschsprung disease [MeSH Descriptor]
- hypertelorism [MeSH Descriptor]
- polydactyly [MeSH Descriptor]
Record concept(s)
- Santos Mateus Leal syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hirschsprung disease with deafness and polydactyly syndrome (disorder) [SNOMED CT concept]
- Hirschsprung disease-deafness-polydactyly syndrome [ORDO Disease]

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