ORPHA:595346
Epidermolysis bullosa simplex without extracutaneous involvement
Synonyms: EBS without extracutaneous involvement
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epidermolysis bullosa simplex without extracutaneous involvement | EBS without extracutaneous involvement |
| fr | Epidermolyse bulleuse simple sans manifestations extracutanées | EBS sans manifestations extracutanées |
| de | Epidermolysis bullosa simplex ohne extrakutane Beteiligung | EBS ohne extrakutane Beteiligung |
| es | Epidermólisis ampollosa simple sin afectación extracutánea | EAS sin afectación extracutánea |
| it | Epidermolisi bollosa semplice senza coinvolgimento extracutaneo | EBS senza coinvolgimento extracutaneo |
| nl | Epidermolysis bullosa simplex zonder extracutane betrokkenheid | EBS zonder extracutane betrokkenheid |
| pt | Epidermólise bolhosa simples sem envolvimento extracutâneo | EBS sem envolvimento extracutâneo |
| pl | Postać prosta pęcherzowego oddzielania się naskórka bez zmian pozaskórnych | = en |
| cs | Epidermolysis bullosa simplex bez extrakutánního postižení | = en |
| uk | Простий бульозний епідермоліз без позашкірного ураження | EBS без позашкірного втручання |
| zh | Epidermolysis bullosa simplex without extracutaneous involvement | = en |
| tr | Epidermolysis bullosa simplex without extracutaneous involvement | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680282 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:304Epidermolysis bullosa simplex
rare genetic diseases; rare skin diseases
Children (9):
- ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
- ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplex
- ORPHA:412181Epidermolysis bullosa simplex due to BP230 deficiency
- ORPHA:412189Epidermolysis bullosa simplex due to exophilin 5 deficiency
- ORPHA:158681Epidermolysis bullosa simplex with circinate migratory erythema
- ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation
- ORPHA:79400Localized epidermolysis bullosa simplex
- ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/595346
- This record as JSON: /data/d/595346.json