grubben de cock borghgraef syndrome

Preferred Label : grubben de cock borghgraef syndrome;

MeSH note : Severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin;

Détails

Origin ID

C537621;

UMLS CUI

C2931551;

Currated CISMeF NLP mapping
- Grubben, De Cock, Borghgraef syndrome (disorder) [SNOMED CT concept]
- Grubben-de Cock-Borghgraef syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- developmental disabilities [MeSH Descriptor]
- eczema [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
- muscle hypotonia [MeSH Descriptor]
- tooth abnormalities [MeSH Descriptor]
ORDO relation(s)
- Grubben-de Cock-Borghgraef syndrome [ORDO Disease]
Record concept(s)
- Grubben de Cock Borghgraef syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Grubben, De Cock, Borghgraef syndrome (disorder) [SNOMED CT concept]
- Grubben-de Cock-Borghgraef syndrome [ORDO Disease]

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

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