OMOP Concept 4185544
Glycogen storage disease, type V
StandardConditionSNOMED55912009Disorder
Maps from
7
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Source codes that map to this concept
7 source codes normalize to Glycogen storage disease, type V via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 139360 | Glycogen storage disease, type V | Non-standard |
| ICD10CM | E74.04 | McArdle disease | Non-standard |
| MeSH | D006012 | Glycogen Storage Disease Type V | Non-standard |
| Nebraska Lexicon | 55912009 | Muscle glycogen phosphorylase deficiency | Non-standard |
| Read | C310000 | McArdle's disease | Non-standard |
| Read | C310011 | Myophosphorylase deficiency | Non-standard |
| Read | C310012 | Glycogenosis, type 5 | Non-standard |
Synonyms
Alternative names recorded for Glycogen storage disease, type V across source vocabularies.
- deficiencia de glucógeno fosforilasa muscular
- enfermedad de McArdle
- glucogenosis por deficiencia de miofosforilasa
- glucogenosis, tipo V
- glucogenosis, tipo V (trastorno)
- Glycogenosis, type 5
- Glycogen storage disease type 5
- Glycogen storage disease type V
- Glycogen storage disease, type V (disorder)
- GSD V
- McArdle disease
- McArdle's disease
- Muscle glycogen phosphorylase deficiency
- Myophosphorylase deficiency glycogenosis
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(24)Roll up to these when you need a wider cohort.
- 1Glycogen storage disease, muscular form
- 2Glycogen storage disease
- 2Hereditary disorder of musculoskeletal system
- 2Metabolic myopathy
- 3Disorder of carbohydrate metabolism
- 3Disorder of musculoskeletal system
- 3Disorder of skeletal muscle
- 3Hereditary disorder by system
- 3Storage disease
- 4Disorder of body system
- 4Disorder of muscle
- 4Disorder of soft tissue
- 4Hereditary disease
- 4Inborn error of metabolism
- 4Metabolic disease
- 4Musculoskeletal finding
- 5Clinical finding
- 5Congenital disease
- 5Disease
- 5General finding of soft tissue
- 5Genetic disease
- 5Hereditary metabolic disease
- 5Muscle finding
- 6Disorder of fetus and/or newborn
Get this concept via the API
Resolve Glycogen storage disease, type V - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/4185544?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card