OMOP Concept 37471382
Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation
StandardConditionSNOMED1366554003Disorder
Maps from
0
Descendants
0
Valid from
1 Jun 2025
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Synonyms
Alternative names recorded for Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation across source vocabularies.
- Congenital myasthenic syndrome with ALG14-CDG (congenital disorder of glycosylation)
- Congenital myasthenic syndrome with glycosylation defect due to ALG14 gene mutation
- Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation (disorder)
- síndrome miasténico congénito con defecto de glicosilación debido a mutación debido a mutación de gen ALG14
- síndrome miasténico congénito con defecto de glicosilación debido a mutación de gen de subunidad UDP-N-acetilglucosaminiltransferasa ALG14
- síndrome miasténico congénito con defecto de glicosilación debido a mutación de gen de subunidad UDP-N-acetilglucosaminiltransferasa ALG14 (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(45)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Carbohydrate-deficient glycoprotein syndrome type I
- 1Congenital myasthenic syndrome
- 1Inherited metabolic disorder of nervous system
- 1Metabolic neuropathy
- 1Myasthenic syndrome due to another disorder
- 1Secondary myopathy
- 2Autosomal hereditary disorder
- 2Carbohydrate-deficient glycoprotein syndrome
- 2Congenital disease
- 2Disorder of muscle
- 2Disorder of neuromuscular transmission
- 2Genetically determined myasthenia
- 2Hereditary disorder of nervous system
- 2Inborn error of metabolism
- 2Neuropathy
- 3Disease
- 3Disorder of glycoprotein metabolism
- 3Disorder of nervous system
- 3Fetal and/or neonatal disorder
- 3Hereditary disease
- 3Hereditary disorder by system
- 3Hereditary disorder of immune system
- 3Hereditary disorder of musculoskeletal system
- 3Hereditary metabolic disease
Showing 25 of 45. Retrieve the full set via the API.
Get this concept via the API
Resolve Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation - 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/37471382?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card