Other congenital malformations of liver

Preferred Label : Other congenital malformations of liver;

Inclusion CIM-10 : Accessory liver; Congenital malformation of liver NOS; Congenital hepatomegaly; Congenital absence of liver; Alagille's syndrome;

Diag associé à un acte (%) : 87.7;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q447;

UMLS CUI

C0478037;

Automatic exact mappings (from CISMeF team)
- Accessory liver (disorder) [SNOMED CT concept]
- Alagille syndrome [ICD-11 More detail]
- Alagille syndrome [OMIM phenotypic series]
- Congenital absence of liver [ICD-11 More detail]
- Congenital absence of liver (disorder) [SNOMED CT concept]
- Congenital hepatomegaly [ICD-11 More detail]
- Congenital hepatomegaly [MedDRA Preferred Term]
- Congenital hepatomegaly (disorder) [SNOMED CT concept]
- liver diseases [MedlinePlus Topic]
CISMeF manual mappings
- Alagille syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Alagille Syndrome [NCIt concept]
- Alagille syndrome [MedDRA Preferred Term]
- Alagille syndrome [DO Concept]
- Alagille syndrome 1 [OMIM Phenotype]
- Arteriohepatic dysplasia (disorder) [SNOMED CT concept]
- alagille syndrome [MeSH Descriptor]
- alagille syndrome [MeSH concept]
- arteriohepatic dysplasia [SNOMED Notion]
DO Cross reference
- Alagille syndrome [DO Concept]
Orphanet concepts
- Alagille syndrome [ORDO Disease]
- Alagille syndrome due to 20p12 microdeletion [ORDO Disease]
- Alagille syndrome due to a JAG1 point mutation [ORDO Disease]
- Alagille syndrome due to a NOTCH2 point mutation [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

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