ORPHA:617
Congenital primary megaureter
Synonyms: Congenital primary megalo-ureter
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare non-syndromic urogenital tract malformation characterized by a dilated ureter and normal bladder and bladder outlet. It may be obstructed, refluxing or unobstructed and not refluxing.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital primary megaureter | Congenital primary megalo-ureter |
| fr | Méga-uretère primitif congénital | |
| de | Megaureter, kongenitaler primärer | |
| es | Megauréter congénito primario | Megalouréter congénito primario |
| it | Megauretra primitiva congenita | Megalouretra primitiva congenita |
| nl | Congenitale primaire mega-ureter | Congenitale primaire megalo-ureter |
| pt | Mega-ureter congénito | |
| pl | Wrodzona pierwotna cewka moczowa olbrzymia | Wrodzona pierwotna cewka moczowa olbrzymia |
| cs | Vrozený primární megaureter | Vrozený primární megaloureter |
| uk | Вроджений первинний мегауретер | Вроджена первинна мегалоуретра |
| zh | 先天性原发性巨输尿管 | 先天性原发性巨输尿管 |
| tr | Doğumsal primer megaüreter | Doğumsal primer megalo-üreter |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q62.2 | E | specific | validated |
| ICD-11 | LB31.1 | E | specific | validated |
| MONDO | 0018960 | E | validated | |
| UMLS | C4273898 | 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 (3):
- ORPHA:357506Genetic non-syndromic renal or urinary tract malformation
rare genetic diseases - ORPHA:93546Non-syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare renal diseases; rare transplant-related disorders - ORPHA:182124Non-syndromic urogenital tract malformation of male and female
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare transplant-related disorders
Children (5):
- ORPHA:238654Congenital primary megaureter, nonrefluxing and unobstructed form
- ORPHA:238646Congenital primary megaureter, obstructed form
- ORPHA:544578Congenital primary megaureter, refluxing and obstructed form
- ORPHA:238650Congenital primary megaureter, refluxing form
- ORPHA:238642Primary megaureter, adult-onset form
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010935 | Abnormality of the upper urinary tract | |
| HP:0008676 | Congenital megaureter | |
| HP:0000126 | Hydronephrosis | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001945 | Fever | |
| HP:0002907 | Microscopic hematuria | |
| HP:0000787 | Nephrolithiasis | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0000076 | Vesicoureteral reflux | |
| Occasional (29-5%) | ||
| HP:0000036 | Abnormality of the penis | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/617
- This record as JSON: /data/d/617.json