Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy

Preferred Label : Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy;

UMLS semantic type : T047 - Disease or Syndrome;

Détails

Origin ID

M0530446;

UMLS CUI

C1857352;

Currated CISMeF NLP mapping
- Dandy-walker malformation with impaired intellectual development, macrocephaly, myopia, and brachytelephalangy [OMIM Phenotype]
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Short and broad fingernails [HPO term]
Related record
- dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dandy-walker malformation with impaired intellectual development, macrocephaly, myopia, and brachytelephalangy [OMIM Phenotype]
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients