Split-foot deformity with mandibulofacial dysostosis

Preferred Label : Split-foot deformity with mandibulofacial dysostosis;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Patterson-stevenson-fontaine syndrome;

Inheritance : Autosomal dominant with variable expressivity and incomplete penetrance;

Prefixed ID : 183700;

Détails

Origin ID

183700;

UMLS CUI

C5574964;

Currated CISMeF NLP mapping
- Patterson Stevenson Fontaine syndrome (disorder) [SNOMED CT concept]
- Patterson Stevenson syndrome [MeSH concept]
- Patterson-Stevenson-Fontaine syndrome [ORDO Disease]
- patterson stevenson syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the ear [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Malar flattening [HPO term]
- Mandibulofacial dysostosis [HPO term]
- Micrognathia [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
- Toe syndactyly [HPO term]
ORDO concept(s)
- Patterson-Stevenson-Fontaine syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Patterson Stevenson Fontaine syndrome (disorder) [SNOMED CT concept]
- Patterson Stevenson syndrome [MeSH concept]
- Patterson-Stevenson-Fontaine syndrome [ORDO Disease]
- Polydactyly of a triphalangeal thumb [ORDO Disease]
- Polydactyly of a triphalangeal thumb [ICD-11 More detail]
- Polydactyly of triphalangeal thumb (disorder) [SNOMED CT concept]
- Triphalangeal thumb - polysyndactyly syndrome [ICD-11 More detail]
- Triphalangeal thumb and polysyndactyly syndrome (disorder) [SNOMED CT concept]
- patterson stevenson syndrome [MeSH Supplementary Concept]
- triphalangeal thumb polysyndactyly syndrome [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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