OMOP Concept 608098
Autosomal recessive epidermolysis bullosa simplex
StandardConditionSNOMED1156849001Disorder
Maps from
1
Descendants
8
Valid from
31 Jul 2021
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
1 source code normalizes to Autosomal recessive epidermolysis bullosa simplex via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C563408 | Epidermolysis Bullosa Simplex, Autosomal Recessive | Non-standard |
Synonyms
Alternative names recorded for Autosomal recessive epidermolysis bullosa simplex across source vocabularies.
- Autosomal recessive epidermolysis bullosa simplex (disorder)
- epidermólisis bullosa simple autosómica recesiva
- epidermólisis bullosa simple autosómica recesiva (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(30)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Epidermolysis bullosa simplex
- 2Autosomal hereditary disorder
- 2Epidermolysis bullosa
- 3Degenerative skin disorder
- 3Developmental hereditary disorder
- 3Genodermatosis
- 3Hereditary disease
- 3Hereditary disorder of the integument
- 4Congenital anomaly of skin
- 4Degenerative disorder
- 4Developmental disorder
- 4Disorder of integument
- 4Disorder of skin
- 4Genetic disease
- 4Hereditary disorder by system
- 5Congenital anomaly of integument
- 5Disease
- 5Disorder of body system
- 5Disorder of skin and/or subcutaneous tissue
- 5Integumentary system finding
- 5Skin finding
- 6Clinical finding
- 6Congenital malformation
- 6Disorder involving the integument of fetus OR newborn
Narrower concepts
(8)Included automatically when you query with descendants.
- 1Epidermolysis bullosa simplex due to BP230 deficiency
- 1Epidermolysis bullosa simplex due to exophilin 5 deficiency
- 1Epidermolysis bullosa simplex due to plakophilin deficiency
- 1Epidermolysis bullosa simplex with muscular dystrophy
- 1Epidermolysis bullosa simplex with pyloric atresia
- 1KRT14 related epidermolysis bullosa simplex
- 1Lethal acantholytic erosive disorder
- 1Lethal autosomal recessive epidermolysis bullosa simplex
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