congenital disorder of glycosylation, type im

Preferred Label : congenital disorder of glycosylation, type im;

MeSH note : mutation in dolichol kinase (DOLK);

MeSH synonym : CDGIm; dolichol kinase deficiency; CDG1m;

Details

Origin ID

C563666;

UMLS CUI

C1835849;

Automatic exact mappings (from CISMeF team)
- Congenital disorder of glycosylation, type II [OMIM Phenotype]
- Congenital disorder of glycosylation, type III [OMIM Phenotype]
- Congenital disorder of glycosylation, type id [OMIM Phenotype]
- Congenital disorder of glycosylation, type ie [OMIM Phenotype]
- Congenital disorder of glycosylation, type if [OMIM Phenotype]
- Congenital disorder of glycosylation, type in [OMIM Phenotype]
- Congenital disorder of glycosylation, type it [OMIM Phenotype]
Currated CISMeF NLP mapping
- Carbohydrate deficient glycoprotein syndrome type 1m (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type im [OMIM Phenotype]
- DK1-CDG [ORDO Disease]
- Dolichol kinase deficiency [ICD-11 More detail]
- congenital disorder of glycosylation Im [DO Concept]
- dolichol kinase deficiency [Disease (Nov.)]
MeSH term(s) associated for indexing
- congenital disorders of glycosylation [MeSH Descriptor]
- phosphotransferases (Alcohol group acceptor) [MeSH Descriptor]
Record concept(s)
- congenital disorder of glycosylation, type im [MeSH concept]
See also inter- (CISMeF)
- Developmental and epileptic encephalopathy 36 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carbohydrate deficient glycoprotein syndrome type 1m (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type im [OMIM Phenotype]
- DK1-CDG [ORDO Disease]

Keyword's position in hierarchy(ies) :

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