Glycogen storage disease due to muscle beta-enolase deficiency 1162916008
SNOMED CT code
| SNOMED code | 1162916008 |
|---|---|
| name | Glycogen storage disease due to muscle beta-enolase deficiency |
| status | active |
| date introduced | 2021-09-30 |
| fully specified name(s) | Glycogen storage disease due to muscle beta-enolase deficiency (disorder) |
| synonyms |
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| attributes - group2 | |
| Due to | Deficiency of enolase 124618001 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Skeletal muscle structure 127954009 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Glycogen storage disease, muscular form 15978003 Glycogen storage disease due to muscle beta-enolase deficiency 1162916008 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Secondary myopathy 60738003 Glycogen storage disease due to muscle beta-enolase deficiency 1162916008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Glycogen storage disease due to muscle beta-enolase deficiency 1162916008 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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