Rhizomelic Dysplasia

Preferred Label : Rhizomelic Dysplasia;

Alternative definition : NICHD: A form of skeletal dysplasia characterized by shortening of the bones of the proximal segments of the limbs (i.e. the humeri and femora).;

Details

Origin ID

C121675;

UMLS CUI

C4053766;

CISMeF manual mappings
- rhizomelic syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Rhizomelic dysplasia (disorder) [SNOMED CT concept]
- Rhizomelic syndrome [OMIM Phenotype]
See also inter- (CISMeF)
- Rhizomelic syndrome, Urbach type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhizomelic dysplasia (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- LBR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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