ORPHA:137862
Martínez-Frías syndrome
inactive · moved to ORPHA:293864Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Synonyms: Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Martínez-Frías syndrome | Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome |
| fr | Syndrome de Martínez-Frías | Syndrome d'atrésie biliaire duodénale et extrahépatique-hypoplasie du pancréas-malrotation intestinale |
| de | Martínez-Frías-Syndrom | Duodenale und extrahepatische Gallengangatresie - hypoplastisches Pankreas - intestinale Malrotation |
| es | Síndrome de Martínez-Frías | Atresia biliar extrahepática y duodenal-páncreas hipoplásico-malrotación intestinal |
| it | Sindrome di Martínez-Frías | Atresia biliare extraepatica e duodenale - ipoplasia del pancreas - malrotazione intestinale |
| nl | Syndroom van Mártinez-Frías | Duodenale en extrahepatische galatresie - hypoplastische pancreas - intestinale malrotatie-syndroom |
| pt | Síndrome Martinez-Frias | |
| pl | Zespół Martineza i Friasa | Atrezja żółciowych dróg dwunastniczych i pozawątrobowych- hipoplastyczna trzustka - niedokonany zwrot trzewi |
| cs | Syndrom Martínez-Fríasové | Syndrom zahrnující duodenální a extrahepatální biliární atrézii, hypoplastický pankreas a malrotaci střeva |
| uk | Синдром Мартінеса-Фріаса | Синдром атрезїя дванадцятипалої кишки та позапечінкових жовчних шляхів - гіпоплазії підшлункової залози - мальротації кишечника |
| zh | MartÝnez-FrÝas综合征 | 十二指肠和肝外胆道闭锁-胰腺发育不良-肠旋转不良综合征 |
| tr | Martínez-Frías sendromu | Duodenal ve ekstrahepatik biliyer atrezi-hipoplastik pankreas-intestinal malrotasyon sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601346 | E | validated | |
| UMLS | C1832443 | 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
Not placed in any Orphanet classification in this release.
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/137862
- This record as JSON: /data/d/137862.json