Progressive Familial Intrahepatic Cholestasis

Preferred Label : Progressive Familial Intrahepatic Cholestasis;

NCIt definition : A genetic syndrome affecting infants and children. It is characterized by chronic intrahepatic cholestasis usually progressing to cirrhosis within the first ten years of life.;

Details

Origin ID

C84453;

UMLS CUI

C0268312;

Automatic exact mappings (from CISMeF team)
- cholestasis, intrahepatic [MeSH Descriptor]
Currated CISMeF NLP mapping
- Cholestasis, progressive familial intrahepatic [OMIM phenotypic series]
- Cholestasis, progressive familial intrahepatic 1 [MeSH concept]
- Familial intrahepatic cholestasis [ORDO Disease]
- Progressive familial intrahepatic cholestasis [MedDRA Preferred Term]
- Progressive familial intrahepatic cholestasis [ICD-11 Sub-sub category]
- Progressive familial intrahepatic cholestasis [ORDO Disease]
- Progressive intrahepatic cholestasis (disorder) [SNOMED CT concept]
- cholestasis, progressive familial intrahepatic 1 [MeSH Supplementary Concept]
- progressive familial intrahepatic cholestasis [Disease (Nov.)]
- progressive familial intrahepatic cholestasis [DO Concept]
- progressive intrahepatic cholestasis [SNOMED Notion]
DO Cross reference
- progressive familial intrahepatic cholestasis [DO Concept]
Manual NTBT mappings (CISMeF)
- chronic cholestasis [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cholestasis, benign recurrent intrahepatic, 1 [OMIM Phenotype]
- Cholestasis, progressive familial intrahepatic 1 [MeSH concept]
- Cholestasis, progressive familial intrahepatic, 1 [OMIM Phenotype]
- Familial intrahepatic cholestasis [ORDO Disease]
- Progressive familial intrahepatic cholestasis [ORDO Disease]
- Progressive familial intrahepatic cholestasis [MedDRA Preferred Term]
- Progressive familial intrahepatic cholestasis [ICD-11 Sub-sub category]
- Progressive familial intrahepatic cholestasis type 1 [ORDO Disease]
- Progressive intrahepatic cholestasis (disorder) [SNOMED CT concept]
- progressive familial intrahepatic cholestasis [DO Concept]
- progressive intrahepatic cholestasis [SNOMED Notion]
Validated automatic mappings to BTNT
- Progressive familial intrahepatic cholestasis type 1 [ICD-11 More detail]
- benign recurrent intrahepatic cholestasis 1 [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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