OMOP Concept 619239
Congenital muscular dystrophy type 1D large gene mutation
StandardConditionSNOMED890395002Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2021
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Congenital muscular dystrophy type 1D large gene mutation across source vocabularies.
- Congenital muscular dystrophy type 1D large gene mutation (disorder)
- distrofia muscular congénita tipo 1D por mutación del gen LARGE
- distrofia muscular congénita tipo 1D por mutación del gen LARGE (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(32)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital hereditary muscular dystrophy
- 2Autosomal hereditary disorder
- 2Congenital anomaly of skeletal muscle
- 2Hereditary progressive muscular dystrophy
- 3Congenital anomaly of muscle AND/OR tendon
- 3Developmental hereditary disorder
- 3Disorder of skeletal muscle
- 3Hereditary disease
- 3Hereditary disorder of musculoskeletal system
- 3Muscular dystrophy
- 4Chronic disease of musculoskeletal system
- 4Congenital anomaly of musculoskeletal system
- 4Degenerative disorder of muscle
- 4Degenerative disorder of musculoskeletal system
- 4Developmental disorder
- 4Disorder of muscle
- 4Disorder of musculoskeletal system
- 4Disorder of soft tissue
- 4Genetic disease
- 4Hereditary disorder by system
- 5Chronic disease
- 5Congenital malformation
- 5Degenerative disorder
- 5Disease
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