preaxial deficiency, postaxial polydactyly and hypospadias

Preferred Label : preaxial deficiency, postaxial polydactyly and hypospadias;

MeSH synonym : guttmacher syndrome; autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias; preaxial deficiency, postaxial polydactyly, and hypospadias;

Détails

Origin ID

C538278;

UMLS CUI

C1867801;

Automatic exact mappings (from CISMeF team)
- Guttmacher syndrome [DO Concept]
CISMeF manual mappings
- Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Guttmacher syndrome [Disease (Nov.)]
- Guttmacher syndrome [ORDO Disease]
- Preaxial deficiency - postaxial polydactyly - hypospadias [ICD-11 More detail]
- Preaxial deficiency, postaxial polydactyly, and hypospadias [OMIM Phenotype]
DO Cross reference
- Guttmacher syndrome [DO Concept]
Has phenotype(s) (HPO)
- Hypoplasia of the toes [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- hypospadias [MeSH Descriptor]
- polydactyly [MeSH Descriptor]
ORDO relation(s)
- Guttmacher syndrome [ORDO Disease]
Record concept(s)
- Preaxial deficiency, postaxial polydactyly and hypospadias [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Guttmacher syndrome [ORDO Disease]
- Guttmacher syndrome [Disease (Nov.)]
- Guttmacher syndrome [DO Concept]
- Preaxial deficiency - postaxial polydactyly - hypospadias [ICD-11 More detail]
- Preaxial deficiency, postaxial polydactyly, and hypospadias [OMIM Phenotype]
- Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) [SNOMED CT concept]

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