rhizomelic chondrodysplasia punctata, type 1

Preferred Label : rhizomelic chondrodysplasia punctata, type 1;

MeSH synonym : chondrodystrophia calcificans punctata; RCDP1;

Origin ID

C531651;

UMLS CUI

C1859133;

Currated CISMeF NLP mapping
- Rhizomelic chondrodysplasia punctata type 1 [ICD-11 More detail]
- Rhizomelic chondrodysplasia punctata type 1 [ORDO Disease]
- Rhizomelic chondrodysplasia punctata type 1 (disorder) [SNOMED CT concept]
- Rhizomelic chondrodysplasia punctata, type 1 [OMIM Phenotype]
- rhizomelic chondrodysplasia punctata type 1 [DO Concept]
MeSH term(s) associated for indexing
- Peroxisomal Targeting Signal 2 Receptor [MeSH Descriptor]
- chondrodysplasia punctata, rhizomelic [MeSH Descriptor]
Record concept(s)
- Rhizomelic chondrodysplasia punctata, type 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhizomelic chondrodysplasia punctata type 1 [ORDO Disease]
- Rhizomelic chondrodysplasia punctata type 1 [ICD-11 More detail]
- Rhizomelic chondrodysplasia punctata type 1 (disorder) [SNOMED CT concept]
- Rhizomelic chondrodysplasia punctata, type 1 [OMIM Phenotype]
- rhizomelic chondrodysplasia punctata type 1 [DO Concept]
Validated automatic mappings to NTBT
- Rhizomelic Chondrodysplasia Punctata [NCIt concept]
- Rhizomelic chondrodysplasia punctata [ORDO Disease]
- Rhizomelic chondrodysplasia punctata syndrome (disorder) [SNOMED CT concept]
- rhizomelic chondrodysplasia punctata [Disease (Nov.)]
- rhizomelic chondrodysplasia punctata [DO Concept]
- rhizomelic chondrodysplasia punctata syndrome [SNOMED Notion]