pfeiffer mayer syndrome

Preferred Label : pfeiffer mayer syndrome;

MeSH note : Short stature, mental retardation, type I preaxial polydactyly with colobomatous abnormalities;

Details

Origin ID

C537888;

UMLS CUI

C2931655;

Currated CISMeF NLP mapping
- Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Preaxial polydactyly-colobomata-intellectual disability syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- coloboma [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- polydactyly [MeSH Descriptor]
Record concept(s)
- Pfeiffer Mayer syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Preaxial polydactyly-colobomata-intellectual disability syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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