cholestasis, progressive familial intrahepatic 1

Preferred Label : cholestasis, progressive familial intrahepatic 1;

CISMeF synonym : summerskill syndrome;

MeSH synonym : progressive familial intrahepatic cholestasis; cholestasis, fatal intrahepatic; byler disease; byler's disease; progressive familial intrahepatic cholestasis type 1 (PFIC 1); FIC1 deficiency; progressive familial intrahepatic cholestasis type 1 (PFIC1); cholestasis, progressive familial intrahepatic, 1; PFIC1 Progressive familial intrahepatic cholestasis type 1;

Related MeSH term : Cholestasis, Benign Recurrent Intrahepatic, 1; Cholestasis, benign recurrent intrahepatic 1;

Details

Origin ID

C535933;

UMLS CUI

C4551898;

Automatic exact mappings (from CISMeF team)
- Byler disease [PASCAL descriptor]
- benign recurrent intrahepatic cholestasis 1 [DO Concept]
CISMeF manual mappings
- Progressive familial intrahepatic cholestasis type 1 [ORDO Disease]
- progressive intrahepatic cholestasis [SNOMED Notion]
Currated CISMeF NLP mapping
- Cholestasis, benign recurrent intrahepatic, 1 [OMIM Phenotype]
- Cholestasis, progressive familial intrahepatic, 1 [OMIM Phenotype]
- Progressive Familial Intrahepatic Cholestasis [NCIt concept]
- Progressive familial intrahepatic cholestasis [MedDRA Preferred Term]
- Progressive familial intrahepatic cholestasis [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 1 [ICD-11 More detail]
- Progressive intrahepatic cholestasis (disorder) [SNOMED CT concept]
- benign recurrent intrahepatic cholestasis 1 [Disease (Nov.)]
- progressive familial intrahepatic cholestasis [Disease (Nov.)]
- progressive familial intrahepatic cholestasis [DO Concept]
- progressive familial intrahepatic cholestasis 1 [DO Concept]
DO Cross reference
- progressive familial intrahepatic cholestasis 1 [DO Concept]
MeSH term(s) associated for indexing
- cholestasis, intrahepatic [MeSH Descriptor]
ORDO relation(s)
- Progressive familial intrahepatic cholestasis type 1 [ORDO Disease]
Record concept(s)
- Cholestasis, progressive familial intrahepatic 1 [MeSH concept]
- Summerskill syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Byler disease [MedDRA LLT]
- Cholestasis, progressive familial intrahepatic, 1 [OMIM Phenotype]
- Progressive familial intrahepatic cholestasis type 1 (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Cholestasis, progressive familial intrahepatic [OMIM phenotypic series]
- Progressive familial intrahepatic cholestasis [ICD-11 Sub-sub category]

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