Congenital megacalycosis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- All ages
- Status
- active
Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital megacalycosis | |
| fr | Mégacalicose congénitale | |
| de | Megakalikose, kongenitale | |
| es | Megacalicosis congénita | |
| it | Megacalicosi congenita | |
| nl | Congenitale megacalycosis | |
| pt | Megacalicose congénita | |
| pl | Wrodzone poszerzenie kielichów nerek | |
| cs | Vrozená dilatace renálních kalichů | |
| uk | Вроджений мегакалікоз | |
| zh | 先天性巨肾盏 | |
| tr | Doğumsal megakalikoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q63.8 | NTBT | attributed | validated |
| ICD-11 | LB31.Y | NTBT | index | validated |
| MONDO | 0019639 | E | validated | |
| UMLS | C5545379 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93546Non-syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare renal diseases; rare transplant-related disorders
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | 23252475[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23252475[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.
HPO phenotypes
10 annotations · validated 2016-12-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0100581 | Dilatation of renal calices | |
| Frequent (79-30%) | ||
| HP:0012211 | Abnormal renal physiology | |
| HP:0000105 | Enlarged kidney | |
| HP:0000790 | Hematuria | |
| HP:0000126 | Hydronephrosis | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0000107 | Renal cyst | |
| HP:0001970 | Tubulointerstitial nephritis | |
| Occasional (29-5%) | ||
| HP:0000787 | Nephrolithiasis | |
| Excluded (0%) | ||
| HP:0006000 | Ureteral obstruction | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 16293636[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93109
- This record as JSON: /data/d/93109.json