OMOP Concept 4166143
Glycogen storage disease due to acid maltase deficiency
StandardConditionSNOMED274864009Disorder
Maps from
7
Descendants
2
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
7 source codes normalize to Glycogen storage disease due to acid maltase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 135438 | Juvenile Glycogen Storage Disease Type II | Non-standard |
| CIEL | 139363 | Glycogen storage disease, type II | Non-standard |
| ICD10CM | E74.02 | Pompe disease | Non-standard |
| MeSH | D006009 | Glycogen Storage Disease Type II | Non-standard |
| Nebraska Lexicon | 274864009 | Glycogen storage disease due to acid maltase deficiency | Non-standard |
| Read | C310112 | Pompe's disease | Non-standard |
| Read | C310113 | Glycogenosis, type 2 | Non-standard |
Synonyms
Alternative names recorded for Glycogen storage disease due to acid maltase deficiency across source vocabularies.
- Alpha-1,4-glucosidase acid deficiency
- enfermedad cardíaca por glucógeno
- enfermedad de Pompe
- enfermedad por depósito de glucógeno debida a deficiencia de maltasa
- enfermedad por depósito de glucógeno debida a deficiencia de maltasa (trastorno)
- enfermedad por depósito de glucógeno en los niños
- enfermedad por depósito de glucógeno, tipo II, infantil
- Glycogen heart disease
- Glycogenosis due to acid maltase deficiency
- Glycogenosis type II
- Glycogen storage disease due to acid maltase deficiency (disorder)
- Glycogen storage disease, type II
- Pompe disease
- Pompe's disease
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(14)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Glycogen storage disease
- 2Autosomal hereditary disorder
- 2Disorder of carbohydrate metabolism
- 2Storage disease
- 3Hereditary disease
- 3Inborn error of metabolism
- 3Metabolic disease
- 4Congenital disease
- 4Disease
- 4Genetic disease
- 4Hereditary metabolic disease
- 5Clinical finding
- 5Disorder of fetus and/or newborn
Narrower concepts
(2)Included automatically when you query with descendants.
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