Tibia, hypoplasia of, with polydactyly

Preferred Label : Tibia, hypoplasia of, with polydactyly;

Obsolete resource : true;

Moved to : 188740;

Alternative titles and symbols : Tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia;

Inheritance : Autosomal dominant; ? same as absent tibia with polydactyly;

Prefixed ID : 188770;

Details

Origin ID

188770;

UMLS CUI

C1861098;

CISMeF manual mappings
- Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Hypoplastic tibiae-postaxial polydactyly syndrome [ORDO Disease]
- tibia, hypoplasia of, with polydactyly [MeSH concept]
- tibia, hypoplasia of, with polydactyly [MeSH Supplementary Concept]
HPO term(s)
- Depressed nasal tip due to major alar cartilage hypoplasia [HPO term]
See also inter- (CISMeF)
- hypoplastic or aplastic tibia with polydactyly [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoplastic tibiae-postaxial polydactyly syndrome [ORDO Disease]
- tibia, hypoplasia of, with polydactyly [MeSH Supplementary Concept]
- tibia, hypoplasia of, with polydactyly [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients