Progressive familial intrahepatic cholestasis type 1

Preferred Label : Progressive familial intrahepatic cholestasis type 1;

ICD-11 definition : Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.;

ICD-11 synonym : PFIC1 - [Progressive familial intrahepatic cholestasis type 1];

ICD-11 acronym : PFIC1;

Details

Origin ID

1414850183;

Automatic exact mappings (from CISMeF team)
- ATPase phospholipid transporting 8B1 [ORDO Gene]
Currated CISMeF NLP mapping
- Cholestasis, benign recurrent intrahepatic, 1 [OMIM Phenotype]
- Cholestasis, progressive familial intrahepatic 1 [MeSH concept]
- Cholestasis, progressive familial intrahepatic, 1 [OMIM Phenotype]
- Progressive familial intrahepatic cholestasis type 1 [ORDO Disease]
- benign recurrent intrahepatic cholestasis 1 [Disease (Nov.)]
- cholestasis, progressive familial intrahepatic 1 [MeSH Supplementary Concept]
- progressive familial intrahepatic cholestasis 1 [DO Concept]
Validated automatic mappings to NTBT
- Progressive Familial Intrahepatic Cholestasis [NCIt concept]
- Progressive familial intrahepatic cholestasis [MedDRA Preferred Term]
- Progressive familial intrahepatic cholestasis [ORDO Disease]
- Progressive intrahepatic cholestasis (disorder) [SNOMED CT concept]
- progressive familial intrahepatic cholestasis [Disease (Nov.)]
- progressive intrahepatic cholestasis [SNOMED Notion]

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