rhizomelic chondrodysplasia punctata, type 3

Preferred Label : rhizomelic chondrodysplasia punctata, type 3;

CISMeF synonym : Alkyglycerone-Phosphate synthase deficiency;

MeSH synonym : alkyldihydroxyacetonephosphate synthase deficiency; AGPS deficiency; Alkylglycerone-Phosphate synthase deficiency;

Details

Origin ID

C537608;

UMLS CUI

C1838612;

Currated CISMeF NLP mapping
- Rhizomelic chondrodysplasia punctata type 3 [ICD-11 More detail]
- Rhizomelic chondrodysplasia punctata type 3 [ORDO Disease]
- Rhizomelic chondrodysplasia punctata type 3 (disorder) [SNOMED CT concept]
- Rhizomelic chondrodysplasia punctata, type 3 [OMIM Phenotype]
- rhizomelic chondrodysplasia punctata type 3 [DO Concept]
MeSH term(s) associated for indexing
- chondrodysplasia punctata, rhizomelic [MeSH Descriptor]
Record concept(s)
- Rhizomelic chondrodysplasia punctata, type 3 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhizomelic chondrodysplasia punctata type 3 [ORDO Disease]
- Rhizomelic chondrodysplasia punctata type 3 [ICD-11 More detail]
- Rhizomelic chondrodysplasia punctata type 3 (disorder) [SNOMED CT concept]
- Rhizomelic chondrodysplasia punctata, type 3 [OMIM Phenotype]
- rhizomelic chondrodysplasia punctata type 3 [DO Concept]

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