Dolichol kinase deficiency

Preferred Label : Dolichol kinase deficiency;

ICD-11 definition : CDG syndrome type Im is is a Congenital Disorders of Glycosylation characterised by muscular hypotonia and ichthyosis.;

ICD-11 synonym : Carbohydrate deficient glycoprotein syndrome type 1M; CDG - [Congenital disorder of glycosylation] syndrome type 1M; CDG syndrome type 1M; Hypotonia or ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1M;

Details

Origin ID

431935004;

Automatic exact mappings (from CISMeF team)
- Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
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]
- congenital disorder of glycosylation Im [DO Concept]
- congenital disorder of glycosylation, type im [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type im [MeSH concept]
- dolichol kinase deficiency [Disease (Nov.)]
Validated automatic mappings to NTBT
- Carbohydrate-deficient glycoprotein syndrome type I (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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