rhizomelic chondrodysplasia punctata, type 2

Preferred Label : rhizomelic chondrodysplasia punctata, type 2;

MeSH synonym : DHAPAT deficiency; dihydroxyacetonephosphate acyltransferase deficiency; type 2 rhizomelic chondrodysplasia punctata; GNPAT deficiency; human dihydroxyacetonephosphate acyltransferase deficiency; peroxisomal dihydroxyacetonephosphate acyltransferase deficiency; chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency; glyceronephosphate acyltransferase deficiency; glyceronephosphate O-Acyltransferase deficiency; chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency;

Details

Origin ID

C537607;

UMLS CUI

C1857242;

Currated CISMeF NLP mapping
- Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder) [SNOMED CT concept]
- Rhizomelic chondrodysplasia punctata type 2 [ICD-11 More detail]
- Rhizomelic chondrodysplasia punctata type 2 [ORDO Disease]
- Rhizomelic chondrodysplasia punctata type 2 (disorder) [SNOMED CT concept]
- Rhizomelic chondrodysplasia punctata, type 2 [OMIM Phenotype]
- rhizomelic chondrodysplasia punctata type 2 [DO Concept]
MeSH term(s) associated for indexing
- chondrodysplasia punctata, rhizomelic [MeSH Descriptor]
Record concept(s)
- Rhizomelic chondrodysplasia punctata, type 2 [MeSH concept]
See also (suggested by CISMeF)
- glycerone-phosphate O-acyltransferase [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhizomelic chondrodysplasia punctata type 2 [ORDO Disease]
- Rhizomelic chondrodysplasia punctata type 2 (disorder) [SNOMED CT concept]
- Rhizomelic chondrodysplasia punctata, type 2 [OMIM Phenotype]
- rhizomelic chondrodysplasia punctata type 2 [DO Concept]

Keyword's position in hierarchy(ies) :

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