Dk phocomelia syndrome

Preferred Label : Dk phocomelia syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Phocomelia, thrombocytopenia, encephalocele, urogenital malformations; Von voss-cherstvoy syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : 223340;

Détails

Origin ID

223340;

UMLS CUI

C1857226;

Currated CISMeF NLP mapping
- DK phocomelia syndrome [MeSH concept]
- DK phocomelia syndrome [MeSH Supplementary Concept]
- DK phocomelia syndrome (disorder) [SNOMED CT concept]
- Von Voss-Cherstvoy syndrome [ORDO Disease]
HPO term(s)
- Abnormality of the genitourinary system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Encephalocele [HPO term]
- Phocomelia [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Von Voss-Cherstvoy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DK phocomelia syndrome [MeSH Supplementary Concept]
- DK phocomelia syndrome [MeSH concept]
- DK phocomelia syndrome (disorder) [SNOMED CT concept]
- Von Voss-Cherstvoy syndrome [ORDO Disease]

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

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