OMOP Concept 4046355
Genetically determined myasthenia
StandardConditionSNOMED230669004Disorder
Maps from
2
Descendants
9
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to Genetically determined myasthenia via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 143818 | Congenital myasthenia | Non-standard |
| Nebraska Lexicon | 230669004 | Genetically determined myasthenia | Non-standard |
Synonyms
Alternative names recorded for Genetically determined myasthenia across source vocabularies.
- Genetically determined myasthenia (disorder)
- miastenia determinada genéticamente
- miastenia determinada genéticamente (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(29)Roll up to these when you need a wider cohort.
- 1Hereditary disorder of immune system
- 1Hereditary disorder of musculoskeletal system
- 1Hereditary disorder of nervous system
- 1Myasthenia gravis
- 2Antibody-mediated activation and inactivation
- 2Autoimmune disease
- 2Disorder of immune function
- 2Disorder of musculoskeletal system
- 2Disorder of nervous system
- 2Disorder of neuromuscular transmission
- 2Hereditary disorder by system
- 2Immune-mediated neuropathy
- 2Myoneural disorder
- 3Disease
- 3Disorder of body system
- 3Disorder of skeletal muscle
- 3Disorder of the peripheral nervous system
- 3Hereditary disease
- 3Immune hypersensitivity disorder by mechanism
- 3Musculoskeletal finding
- 3Neuromuscular junction disorder
- 3Neuropathy
- 4Clinical finding
- 4Disorder of muscle
- 4Disorder of soft tissue
Narrower concepts
(9)Included automatically when you query with descendants.
- 1Abnormality of synaptic vesicles
- 1Congenital myasthenic syndrome
- 1Decrease of motor end-plate potential amplitude without acetylcholine receptor deficiency
- 1Pseudomyopathic myasthenia
- 1Putative defect in acetylcholine synthesis or packaging
- 2Acetylcholine resynthesis deficiency
- 2Congenital end-plate acetylcholine receptor deficiency
- 2Congenital end-plate acetylcholinesterase deficiency
- 2Familial infantile myasthenia
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