Progressive familial intrahepatic cholestasis (Q43639): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed an Item |
||||||||||||||
| (7 intermediate revisions by the same user not shown) | |||||||||||||||
| description / pt-br | description / pt-br | ||||||||||||||
A colestase intra-hepática familiar progressiva (PFIC) se refere a um grupo heterogêneo de transtornos autossômicos recessivos da infância que interferem na formação da bile e se apresentam com colestase de origem hepatocelular. Três tipos de PFIC foram identificados e estão relacionados a mutações nos genes do sistema de transporte hepatocelular envolvidos na formação da bile. PFIC1 e PFIC2 geralmente aparecem nos primeiros meses de vida, enquanto o início de PFIC3 também pode ocorrer mais tarde na primeira infância, na infância tardia ou mesmo durante a idade adulta jovem. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. PFIC1 and PFIC2 usually appear in the first months of life, whereas onset of PFIC3 may also occur later in infancy, in childhood or even during young adulthood. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/1457142642 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:5C58.03 | |||||||||||||||
| Property / CURIE: CID11:5C58.03 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-5C58.03 | |||||||||||||||
| Property / Canary Token: dki-india-5C58.03 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
13 August 2026
| |||||||||||||||
| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Linked ICD 10 | |||||||||||||||
| Property / Linked ICD 10: K76.8 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 10:44, 13 August 2026
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. PFIC1 and PFIC2 usually appear in the first months of life, whereas onset of PFIC3 may also occur later in infancy, in childhood or even during young adulthood.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C58.03 |
||
| English | Progressive familial intrahepatic cholestasis |
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. PFIC1 and PFIC2 usually appear in the first months of life, whereas onset of PFIC3 may also occur later in infancy, in childhood or even during young adulthood. |
Statements
CID11:5C58.03
0 references
dki-india-5C58.03
0 references
Concluído
0 references
13 August 2026
0 references
