Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema

Preferred Label : Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 179250;

Details

Origin ID

179250;

UMLS CUI

C1867397;

Currated CISMeF NLP mapping
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome [ORDO Disease]
- radial hypoplasia, triphalangeal thumbs and hypospadias [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Diastema [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypospadias [HPO term]
- Nonopposable triphalangeal thumb [HPO term]
ORDO concept(s)
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome [ORDO Disease]
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 and hypospadias [MeSH concept]
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome [ORDO Disease]
- radial hypoplasia, triphalangeal thumbs and hypospadias [MeSH Supplementary Concept]

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