Rhizomelic syndrome

Preferred Label : Rhizomelic syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Rhizomelic dysplasia, familial;

Inheritance : Autosomal recessive;

Prefixed ID : 268250;

Détails

Origin ID

268250;

UMLS CUI

C1849382;

Currated CISMeF NLP mapping
- Rhizomelic Dysplasia [NCIt concept]
- Rhizomelic dysplasia (disorder) [SNOMED CT concept]
- Rhizomelic syndrome [MeSH concept]
- Rhizomelic syndrome, Urbach type [ORDO Disease]
- rhizomelic syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bifid distal phalanx of the thumb [HPO term]
- Complete duplication of thumb phalanx [HPO term]
- Hip dislocation [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Pulmonic stenosis [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Short stature [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Rhizomelic syndrome, Urbach type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhizomelic syndrome [MeSH concept]
- Rhizomelic syndrome, Urbach type [ORDO Disease]
- rhizomelic syndrome [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Rhizomelic syndrome Urbach type (disorder) [SNOMED CT concept]

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