spondylometaphyseal dysplasia with Cone-Rod dystrophy

Preferred Label : spondylometaphyseal dysplasia with Cone-Rod dystrophy;

CISMeF acronym : SMD-CRD;

MeSH synonym : SMDCRD;

Origin ID

C563825;

UMLS CUI

C1837073;

Currated CISMeF NLP mapping
- Spondylometaphyseal dysplasia - cone-rod dystrophy [ICD-11 More detail]
- Spondylometaphyseal dysplasia with cone-rod dystrophy [OMIM Phenotype]
- Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
- retinitis pigmentosa [MeSH Descriptor]
Record concept(s)
- spondylometaphyseal dysplasia with Cone-Rod dystrophy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylometaphyseal dysplasia with cone-rod dystrophy [OMIM Phenotype]
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [ORDO Disease]
- spondylometaphyseal dysplasia with cone-rod dystrophy [DO Concept]