OMOP Concept 37204238
Congenital muscular dystrophy with intellectual disability and severe epilepsy
StandardConditionSNOMED782772000Disorder
Maps from
0
Descendants
0
Valid from
31 Jul 2019
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Congenital muscular dystrophy with intellectual disability and severe epilepsy across source vocabularies.
- Carbohydrate deficient glycoprotein syndrome type 1u
- Congenital disorder of glycosylation type 1u
- Congenital muscular dystrophy with intellectual disability and severe epilepsy (disorder)
- distrofia muscular congénita con discapacidad intelectual y epilepsia severa
- distrofia muscular congénita con discapacidad intelectual y epilepsia severa (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(65)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Carbohydrate-deficient glycoprotein syndrome type I
- 1Chronic brain syndrome
- 1Chronic metabolic disorder
- 1Congenital hereditary muscular dystrophy
- 1Epilepsy
- 1Inherited metabolic disorder of nervous system
- 1Intellectual disability
- 2Autosomal hereditary disorder
- 2Behavior finding
- 2Carbohydrate-deficient glycoprotein syndrome
- 2Chronic disease
- 2Chronic nervous system disorder
- 2Congenital anomaly of skeletal muscle
- 2Disorder of brain
- 2Hereditary disorder of nervous system
- 2Hereditary progressive muscular dystrophy
- 2Impaired cognition
- 2Inborn error of metabolism
- 2Intellectual ability - finding
- 2Metabolic disease
- 2Neurodevelopmental disorder
- 2OMOP Seizure 1
- 2Seizure disorder
- 3Cognitive function finding
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