ORPHA:97367
Renal tubular dysgenesis due to twin-twin transfusion
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Status
- active
A rare acquired form of renal tubular dysgenesis that develops in donor fetuses due to the shunting of blood flow to the kidney of the recipient and characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Renal tubular dysgenesis due to twin-twin transfusion | |
| fr | Dysgénésie tubulaire rénale associée au syndrome de transfusion foeto-foetale | Dysgénésie tubulaire rénale associée au syndrome du transfuseur transfusé |
| de | Renale tubuläre Dysgenesie durch Zwilling-Zwilling-Transfusion | Dysgenesie der Nierentubuli durch Zwillings-Transfusions-Syndrom |
| es | Disgenesia tubular renal por transfusión gemelo-gemelo | |
| it | Disgenesia dei tubuli renali da trasfusione gemello-gemello | |
| nl | Renale tubulaire dysgenesie als gevolg van tweeling-tweelingtransfusie | |
| pt | Disgenesia tubular renal por transfusão gémeo-gémeo | |
| pl | Dysgenezja kanalików nerkowych z powodu zespołu przetoczenia krwi między płodami | |
| cs | Renální tubulární dysgeneze způsobená syndromem feto-fetální transfuze | |
| uk | Дисгенезія ниркових канальців внаслідок переливання крові між близнюками | |
| zh | 双胞胎输血引起肾小管发育不全 | |
| tr | İkizler arası transfüzyonuna bağlı renal tübüler disgenezi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q63.8 | NTBT | attributed | validated |
| ICD-11 | LB30.3 | NTBT | index | validated |
| MONDO | 0019984 | E | validated | |
| UMLS | C5438872 | 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:3033Renal tubular dysgenesis
rare developmental anomalies during embryogenesis; 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
0 recordsNo prevalence record in this release.
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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/97367
- This record as JSON: /data/d/97367.json