Naguib-Richieri-Costa syndrome

Preferred Label : Naguib-Richieri-Costa syndrome;

MeSH synonym : hypertelorism hypospadias polysyndactyly syndrome; naguib syndrome; acrofrontofacionasal dysostosis, severe; acrofrontofacionasal dysostosis with genitourinary anomalies; hypertelorism, hypospadias, and polysyndactyly syndrome; acrofrontofacionasal dysostosis 2;

Details

Origin ID

C538332;

UMLS CUI

C1855904;

Automatic exact mappings (from CISMeF team)
- Acrofrontofacionasal dysostosis type 2 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acrofrontofacionasal dysostosis 2 [OMIM Phenotype]
- Hypertelorism-hypospadias-polysyndactyly syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- hypertelorism [MeSH Descriptor]
- hypospadias [MeSH Descriptor]
- syndactyly [MeSH Descriptor]
Record concept(s)
- Naguib-Richieri-Costa syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrofrontofacionasal dysostosis 2 [OMIM Phenotype]
- Acrofrontofacionasal dysostosis type 2 (disorder) [SNOMED CT concept]
- Hypertelorism-hypospadias-polysyndactyly syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients