OMOP Concept 37110717
Autosomal recessive limb girdle muscular dystrophy type 2O
StandardConditionSNOMED725043006Disorder
Maps from
0
Descendants
0
Valid from
31 Jul 2017
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Autosomal recessive limb girdle muscular dystrophy type 2O across source vocabularies.
- Autosomal recessive limb girdle muscular dystrophy type 2O (disorder)
- distrofia muscular de las cinturas de las extremidades tipo 2O autosómica recesiva
- distrofia muscular de las cinturas de las extremidades tipo 2O autosómica recesiva (trastorno)
- Limb-girdle muscular dystrophy 2O POMGNT1 gene mutation
- Limb-girdle muscular dystrophy 2O POMGNT1 (protein o-mannose beta-1,2-n-acetylglucosaminyltransferase) gene mutation
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(27)Roll up to these when you need a wider cohort.
- 1Autosomal recessive muscular dystrophy with limb girdle distribution
- 2Autosomal recessive hereditary disorder
- 2Muscular dystrophy with predominantly proximal limb girdle distribution
- 3Autosomal hereditary disorder
- 3Hereditary progressive muscular dystrophy
- 4Developmental hereditary disorder
- 4Hereditary disease
- 4Hereditary disorder of musculoskeletal system
- 4Muscular dystrophy
- 5Chronic disease of musculoskeletal system
- 5Degenerative disorder of muscle
- 5Degenerative disorder of musculoskeletal system
- 5Developmental disorder
- 5Disorder of musculoskeletal system
- 5Disorder of skeletal muscle
- 5Genetic disease
- 5Hereditary disorder by system
- 6Chronic disease
- 6Degenerative disorder
- 6Disease
- 6Disorder of body system
- 6Disorder of muscle
- 6Disorder of soft tissue
- 6Musculoskeletal finding
- 7Clinical finding
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