aphalangia syndactyly microcephaly

Preferred Label : aphalangia syndactyly microcephaly;

MeSH note : Partial aphalangia, syndactyly with duplication of metatarsal IV, microcephaly, dull intelligence, and short stature;

Détails

Origin ID

C537787;

UMLS CUI

C2931611;

CISMeF manual mappings
- Aphalangy and syndactyly with microcephaly syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Aphalangia, partial, with syndactyly and duplication of metatarsal iv [OMIM Phenotype]
- Aphalangy-syndactyly-microcephaly syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- growth disorders [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- syndactyly [MeSH Descriptor]
- toe phalanges [MeSH Descriptor]
Record concept(s)
- Aphalangia syndactyly microcephaly [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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