Glycogen Storage Disease Type IX

Preferred Label : Glycogen Storage Disease Type IX;

NCIt synonyms : Phosphorylase Kinase Deficiency;

NCIt definition : Glycogen storage disease usually inherited in an X-linked recessive pattern. It is characterized by a deficiency of hepatic phosphorylase kinase.;

Details

Origin ID

C122662;

UMLS CUI

C0268147;

Automatic exact mappings (from CISMeF team)
- Deficiency of phosphorylase kinase (disorder) [SNOMED CT concept]
- Glycogen storage disease due to muscle phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease type IX [MedDRA Preferred Term]
- glycogen storage disease IXd [DO Concept]
- glycogen storage disease type vi [MeSH Descriptor]
Currated CISMeF NLP mapping
- Glycogen storage disease due to glycogen phosphorylase kinase deficiency [ICD-11 More detail]
- Glycogen storage disease due to phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease type IX (disorder) [SNOMED CT concept]
- Glycogen storage disease, type IX (disorder) [Inactive SNOMED CT concept]
- glycogen storage disease type 9 [Disease (Nov.)]
- glycogen storage disease type ix [MeSH Supplementary Concept]
- glycogen storage disease type ix [MeSH concept]
- glycogen storage disease, type ix [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to glycogen phosphorylase kinase deficiency [ICD-11 More detail]
- Glycogen storage disease due to phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease type IX [MedDRA Preferred Term]
- Glycogen storage disease type IX (disorder) [SNOMED CT concept]
- Glycogen storage disease, type IX (disorder) [Inactive SNOMED CT concept]
- glycogen storage disease type 9 [Disease (Nov.)]
- glycogen storage disease type ix [MeSH Supplementary Concept]
- glycogen storage disease type ix [MeSH concept]
- glycogen storage disease, type ix [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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