radial hypoplasia, triphalangeal thumbs and hypospadias

Preferred Label : radial hypoplasia, triphalangeal thumbs and hypospadias;

MeSH synonym : radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema; schmitt gillenwater kelly syndrome; radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema;

Details

Origin ID

C536262;

UMLS CUI

C1867397;

Currated CISMeF NLP mapping
- Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) [SNOMED CT concept]
- Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema [OMIM Phenotype]
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- diastema [MeSH Descriptor]
- hypospadias [MeSH Descriptor]
- maxilla [MeSH Descriptor]
- radius [MeSH Descriptor]
- thumb [MeSH Descriptor]
Record concept(s)
- Radial hypoplasia, triphalangeal thumbs and hypospadias [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) [SNOMED CT concept]
- Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema [OMIM Phenotype]
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome [ORDO Disease]

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