OMOP Concept 37109579
Epidermolysis bullosa simplex with muscular dystrophy
StandardConditionSNOMED723308003Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Epidermolysis bullosa simplex with muscular dystrophy via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C535955 | Epidermolysa bullosa simplex and limb girdle muscular dystrophy | Non-standard |
Synonyms
Alternative names recorded for Epidermolysis bullosa simplex with muscular dystrophy across source vocabularies.
- epidermólisis bullosa simple con distrofia muscular
- epidermólisis bullosa simple con distrofia muscular (trastorno)
- Epidermolysis bullosa simplex with muscular dystrophy (disorder)
- Limb girdle muscular dystrophy with epidermolysis bullosa simplex
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(51)Roll up to these when you need a wider cohort.
- 1Autosomal recessive epidermolysis bullosa simplex
- 1Autosomal recessive muscular dystrophy with limb girdle distribution
- 1Basal epidermolysis bullosa simplex
- 1Chronic disease of skin
- 1Congenital hereditary muscular dystrophy
- 2Autosomal recessive hereditary disorder
- 2Chronic disease
- 2Congenital anomaly of skeletal muscle
- 2Disorder of skin
- 2Epidermolysis bullosa simplex
- 2Hereditary progressive muscular dystrophy
- 2Muscular dystrophy with predominantly proximal limb girdle distribution
- 3Autosomal hereditary disorder
- 3Congenital anomaly of muscle AND/OR tendon
- 3Developmental hereditary disorder
- 3Disease
- 3Disorder of skeletal muscle
- 3Disorder of skin and/or subcutaneous tissue
- 3Epidermolysis bullosa
- 3Hereditary disorder of musculoskeletal system
- 3Muscular dystrophy
- 3Skin finding
- 4Chronic disease of musculoskeletal system
- 4Clinical finding
- 4Congenital anomaly of musculoskeletal system
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