ORPHA:595351
Epidermolysis bullosa simplex with extracutaneous involvement
Synonyms: EBS with 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 with extracutaneous involvement | EBS with extracutaneous involvement |
| fr | Epidermolyse bulleuse simple avec manifestations extracutanées | EBS avec manifestations extracutanées |
| de | Epidermolysis bullosa simplex mit extrakutaner Beteiligung | EBS mit extrakutaner Beteiligung |
| es | Epidermólisis ampollosa simple con afectación extracutánea | EAS con afectación extracutánea |
| it | Epidermolisi bollosa semplice con coinvolgimento extracutaneo | EBS con coinvolgimento extracutaneo |
| nl | Epidermolysis bullosa simplex met extracutane betrokkenheid | EBS met extracutane betrokkenheid |
| pt | Epidermólise bolhosa simples com envolvimento extracutâneo | EBS com envolvimento extracutâneo |
| pl | Postać prosta pęcherzowego oddzielania się naskórka ze zmianami pozaskórnymi | = en |
| cs | Epidermolysis bullosa simplex s extrakutánním postižením | = en |
| uk | Простий бульозний епідермоліз з позашкірним ураженням | EBS з позашкірним залученням |
| zh | Epidermolysis bullosa simplex with extracutaneous involvement | = en |
| tr | Epidermolysis bullosa simplex with extracutaneous involvement | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680281 | 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 (5):
- ORPHA:2325Epidermolysis bullosa simplex with anodontia/hypodontia
- ORPHA:257Epidermolysis bullosa simplex with muscular dystrophy
- ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia
- ORPHA:508529Intermediate epidermolysis bullosa simplex with cardiomyopathy
- ORPHA:300333Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
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/595351
- This record as JSON: /data/d/595351.json