neurofaciodigitorenal syndrome - CISMeF

CISMeF

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Neurofaciodigitorenal syndromeMeSH Supplementary Concept

Preferred Label : neurofaciodigitorenal syndrome;

MeSH synonym : Freire-Maia pinheiro opitz syndrome;

Details

Origin ID

C537388;

UMLS CUI

C0796088;

Currated CISMeF NLP mapping
- Neurofaciodigitorenal syndrome [OMIM Phenotype]
- Neurofaciodigitorenal syndrome [ORDO Disease]
- Neurofaciodigitorenal syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- kidney [MeSH Descriptor]
ORDO relation(s)
- Neurofaciodigitorenal syndrome [ORDO Disease]
Record concept(s)
- Neurofaciodigitorenal syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neurofaciodigitorenal syndrome [OMIM Phenotype]
- Neurofaciodigitorenal syndrome [ORDO Disease]
- Neurofaciodigitorenal syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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24/05/2025

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