alagille syndrome

Preferred Label : alagille syndrome;

MeSH definition : A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).;

MeSH synonym : alagille watson syndrome; syndrome, alagille; hepatic ductular hypoplasia, syndromatic; cholestasis with peripheral pulmonary stenosis; arteriohepatic dysplasia; dysplasia, arteriohepatic; cardiovertebral syndrome; syndrome, cardiovertebral; Watson-Miller syndrome; syndrome, Watson-Miller; hepatofacioneurocardiovertebral syndrome; syndrome, hepatofacioneurocardiovertebral; watson alagille syndrome; syndrome, watson alagille; watson miller syndrome; syndrome, watson miller; syndrome, alagille watson; Alagille-Watson syndrome; syndrome, Alagille-Watson; alagille's syndrome; alagilles syndrome; syndrome, alagille's; arteriohepatic dysplasia (AHD); dysplasia, arteriohepatic (AHD);

CISMeF synonym : Alagille; alagille watson syndromes; arteriohepatic dysplasias; cardiovertebral syndromes; ductular hypoplasias, hepatic; dysplasias, arteriohepatic; hepatic ductular hypoplasias; hepatofacioneurocardiovertebral syndromes; hypoplasias, hepatic ductular; syndromes, alagille watson; syndromes, cardiovertebral; syndromes, hepatofacioneurocardiovertebral;

MeSH hyponym : alagille syndrome 2; alagille syndrome 1;

Related MeSH term : paucity of interlobular bile ducts; Hepatic Ductular Hypoplasia; Ductular Hypoplasia, Hepatic; Hypoplasia, Hepatic Ductular;

Details

Origin ID

D016738;

UMLS CUI

C0085280;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Alagille syndrome [ICD-11 More detail]
- Alagille syndrome [OMIM phenotypic series]
- Alagille syndrome 2 [OMIM Phenotype]
- Alagille syndrome type 1 [ICD-11 More detail]
- Alagille syndrome type 2 [ICD-11 More detail]
- liver diseases [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Alagille Syndrome [NCIt concept]
- Alagille syndrome [DO Concept]
- Alagille syndrome [Disease (Nov.)]
- Alagille syndrome [MedDRA Preferred Term]
- Alagille syndrome [ORDO Disease]
- Alagille syndrome 1 [OMIM Phenotype]
- Arteriohepatic dysplasia [PASCAL descriptor]
- Arteriohepatic dysplasia (disorder) [SNOMED CT concept]
- Other congenital malformations of liver [ICD-10 Sub-category]
- arteriohepatic dysplasia [SNOMED Notion]
DO Cross reference
- Alagille syndrome [DO Concept]
False automatic mappings
- Other congenital malformations of liver [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Genetic biliary tract disease [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Rare biliary tract disease [ORDO Disease]
- Rare disease with glaucoma as a major feature [ORDO Disease]
- Rare syndrome with cardiac malformations [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
- Syndromic visceral malformation [ORDO Disease]
MedlinePlus topic(s)
- liver diseases [MedlinePlus Topic]
ORDO relation(s)
- Alagille syndrome [ORDO Disease]
Record concept(s)
- alagille syndrome [MeSH concept]
- alagille syndrome 1 [MeSH concept]
- alagille syndrome 2 [MeSH concept]
- paucity of interlobular bile ducts [MeSH concept]
See also inter- (CISMeF)
- cholestatic pruritus in Alagille syndrome [Indication]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Alagille Syndrome [NCIt concept]
- Alagille syndrome [ORDO Disease]
- Alagille syndrome [MedDRA Preferred Term]
- Alagille syndrome [DO Concept]
- Alagille syndrome [Disease (Nov.)]
- Arteriohepatic dysplasia (disorder) [SNOMED CT concept]
- Other congenital malformations of liver [ICD-10 Sub-category (who)]
- arteriohepatic dysplasia [SNOMED Notion]

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