Preaxial deficiency - postaxial polydactyly - hypospadias

Preferred Label : Preaxial deficiency - postaxial polydactyly - hypospadias;

ICD-11 definition : Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.;

ICD-11 synonym : Guttmacher syndrome;

Details

Origin ID

2007432445;

UMLS CUI

C1867801;

Automatic exact mappings (from CISMeF team)
- Guttmacher syndrome [DO Concept]
Currated CISMeF NLP mapping
- Guttmacher syndrome [ORDO Disease]
- Guttmacher syndrome [Disease (Nov.)]
- Preaxial deficiency, postaxial polydactyly and hypospadias [MeSH concept]
- Preaxial deficiency, postaxial polydactyly, and hypospadias [OMIM Phenotype]
- Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) [SNOMED CT concept]
- preaxial deficiency, postaxial polydactyly and hypospadias [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Guttmacher syndrome [Disease (Nov.)]
- Guttmacher syndrome [ORDO Disease]
- Guttmacher syndrome [DO Concept]
- Preaxial deficiency, postaxial polydactyly and hypospadias [MeSH concept]
- Preaxial deficiency, postaxial polydactyly, and hypospadias [OMIM Phenotype]
- Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) [SNOMED CT concept]
- preaxial deficiency, postaxial polydactyly and hypospadias [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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