ORPHA:304
Epidermolysis bullosa simplex
Synonyms: EBS
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
A group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epidermolysis bullosa simplex | EBS |
| fr | Epidermolyse bulleuse simple | = en |
| de | Epidermolysis bullosa simplex | = en |
| es | Epidermólisis ampollosa simple | Epidermólisis bullosa simple |
| it | Epidermolisi bollosa semplice | = en |
| nl | Epidermolysis bullosa simplex | EBS · EEB |
| pt | Epidermólise bolhosa simples | = en |
| pl | Postać zwykła pęcherzowego oddzielania się naskórka | = en |
| cs | Epidermolysis bullosa, typ simplexní | EBS · EEB |
| uk | Простий бульозний епідермоліз | = en |
| zh | 单纯型大疱性表皮松解症 | EEB |
| tr | Epidermolizis bülloza simpleks | EBS · EEB |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q81.0 | E | specific | validated |
| ICD-11 | EC30 | E | specific | validated |
| MONDO | 0017610 | E | validated | |
| MONDO | 17610 | E | validated | |
| MeSH | D016110 | E | validated | |
| UMLS | C0079298 | E | validated | |
| GARD | 10752 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79361Inherited epidermolysis bullosa
rare genetic diseases; rare skin diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:89839OBSOLETE: Epidermolysis bullosa simplex superficialis referred to · inactive
- ORPHA:158661OBSOLETE: Suprabasal epidermolysis bullosa simplex referred to · inactive
- ORPHA:158665OBSOLETE: Basal epidermolysis bullosa simplex referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.656 / 100 000 | Worldwide | Value and class | Validated | 20566927[PMID]_ 25201089[PMID]_ 33095945[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.58 / 100 000 | Australia | Value and class | Validated | 20566927[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.19 / 100 000 | Netherlands | Value and class | Validated | 33095945[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.197 / 100 000 | Romania | Value and class | Validated | 25201089[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/304
- This record as JSON: /data/d/304.json