muscle phosphoglycerate mutase deficiency - CISMeF

" /> muscle phosphoglycerate mutase deficiency - CISMeF

CISMeF

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Muscle phosphoglycerate mutase deficiencySNOMED Notion

Preferred Label : muscle phosphoglycerate mutase deficiency;

Details

Origin ID

D6-50910;

UMLS CUI

C0268149;

Automatic exact mappings (from CISMeF team)
- Deficiency of phosphoglucomutase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Dimauro disease [MeSH concept]
- Glycogen storage disease X [OMIM Phenotype]
- Glycogen storage disease due to phosphoglycerate mutase deficiency [ORDO Disease]
- Glycogen storage disease type X (disorder) [SNOMED CT concept]
- Muscle phosphoglycerate mutase deficiency (disorder) [SNOMED CT concept]
- Phosphoglycerate Mutase Deficiency [NCIt concept]
- dimauro disease [MeSH Supplementary Concept]
- glycogen storage disease type 10 [Disease (Nov.)]
False automatic mappings
- Glycogen storage disease due to phosphoglucomutase deficiency [ORDO Disease]
ICD-10 exact mapping(s)
- Disorders of plasma-protein metabolism, not elsewhere classified [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Disorder of energy metabolism [ORDO Disease]
- Muscular glycogenosis [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- phosphoglycerate mutase [SNOMED Notion]
SNOMED CT concept
- Muscle phosphoglycerate mutase deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dimauro disease [MeSH concept]
- Glycogen storage disease X [OMIM Phenotype]
- Glycogen storage disease due to phosphoglycerate mutase deficiency [ORDO Disease]
- Glycogen storage disease type X (disorder) [SNOMED CT concept]
- Muscle phosphoglycerate mutase deficiency (disorder) [SNOMED CT concept]
- Phosphoglycerate Mutase Deficiency [NCIt concept]
- dimauro disease [MeSH Supplementary Concept]
- glycogen storage disease type 10 [Disease (Nov.)]

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31/10/2025

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