OMOP Concept 4048655
Congenital end-plate acetylcholine receptor deficiency
StandardConditionSNOMED230673001Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Congenital end-plate acetylcholine receptor deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 230673001 | Congenital end-plate acetylcholine receptor deficiency | Non-standard |
Synonyms
Alternative names recorded for Congenital end-plate acetylcholine receptor deficiency across source vocabularies.
- Congenital end-plate acetylcholine receptor deficiency (disorder)
- deficiencia congénita de la placa terminal del receptor de acetilcolina
- deficiencia congénita de la placa terminal del receptor de acetilcolina (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(33)Roll up to these when you need a wider cohort.
- 1Congenital myasthenic syndrome
- 2Congenital disease
- 2Genetically determined myasthenia
- 3Disorder of fetus and/or newborn
- 3Hereditary disorder of immune system
- 3Hereditary disorder of musculoskeletal system
- 3Hereditary disorder of nervous system
- 3Myasthenia gravis
- 4Antibody-mediated activation and inactivation
- 4Autoimmune disease
- 4Disease
- 4Disorder of immune function
- 4Disorder of musculoskeletal system
- 4Disorder of nervous system
- 4Disorder of neuromuscular transmission
- 4Hereditary disorder by system
- 4Immune-mediated neuropathy
- 4Myoneural disorder
- 5Clinical finding
- 5Disorder of body system
- 5Disorder of skeletal muscle
- 5Disorder of the peripheral nervous system
- 5Hereditary disease
- 5Immune hypersensitivity disorder by mechanism
- 5Musculoskeletal finding
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