ORPHA:93928
Isolated epispadias
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A subtype of exstrophy-epispadias complex (EEC) characterized in males by an open urethra on the dorsum of the penis and in females by a bifid clitoris and variable cleft of the urethra.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated epispadias | |
| fr | Epispadias isolé | |
| de | Epispadie, isolierte | |
| es | Epispadias aislado | |
| it | Epispadia | |
| nl | Geïsoleerde epispadie | |
| pt | Epispádia | |
| pl | Izolowane wierzchniactwo | |
| cs | Epispadie | |
| uk | Ізольовані епіспадії | |
| zh | 孤立型尿道上裂 | |
| tr | İzole epispadias |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q64.0 | E | specific | validated |
| ICD-11 | LB55 | E | specific | validated |
| MONDO | 0019759 | E | validated | |
| MeSH | D004842 | E | validated | |
| UMLS | C0014588 | E | validated | |
| MedDRA | 10015088 | 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:322Exstrophy-epispadias complex
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare urogenital diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | 19878548[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.4 / 100 000 | Europe | Value and class | Not yet validated | 19878548[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.
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HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100627 | Displacement of the urethral meatus | |
| HP:0000039 | Epispadias | |
| Frequent (79-30%) | ||
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0000020 | Urinary incontinence | |
| HP:0000076 | Vesicoureteral reflux | |
| Occasional (29-5%) | ||
| HP:0030911 | Bifid clitoris | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 18314106[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93928
- This record as JSON: /data/d/93928.json