crigler-najjar syndrome

Preferred Label : crigler-najjar syndrome;

MeSH definition : A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation.;

MeSH synonym : crigler najar syndrome; crigler-najar syndrome; crigler najjar syndrome; familial nonhemolytic unconjugated hyperbilirubinemia; hereditary unconjugated hyperbilirubinemia; Hereditary Unconjugated Hyperbilirubinemias; Hyperbilirubinemia, Hereditary Unconjugated; Unconjugated Hyperbilirubinemia, Hereditary; Crigler Najjar Syndromes; Najjar Syndrome, Crigler; Syndrome, Crigler Najjar;

CISMeF synonym : Crigler-Najjar; crigler-najjar's syndrome; syndrome, crigler-najar; syndrome, crigler-najjar; crigler najjar syndrome, type 1;

MeSH hyponym : Crigler-Najjar Syndrome, Type I; Crigler Najjar Syndrome, Type I;

Details

Origin ID

D003414;

UMLS CUI

C5551003;

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)
- Crigler-Najjar disease [PASCAL descriptor]
Currated CISMeF NLP mapping
- Crigler Najjar syndrome [Disease (Nov.)]
- Crigler-Najjar Syndrome [NCIt concept]
- Crigler-Najjar syndrome [ICD-10 Sub-category]
- Crigler-Najjar syndrome [DO Concept]
- Crigler-Najjar syndrome [ICD-11 Sub-sub category]
- Crigler-Najjar syndrome [ICD-10 Sub-category (who)]
- Crigler-Najjar syndrome [MedDRA Preferred Term]
- Crigler-Najjar syndrome [ORDO Disease]
- Crigler-Najjar syndrome (disorder) [SNOMED CT concept]
- Crigler-Najjar syndrome type 1 [ORDO Disease]
- Crigler-Najjar syndrome type I [MedDRA LLT]
- Crigler-najjar syndrome, type I [OMIM Phenotype]
- crigler-najjar syndrome, nos [SNOMED Notion]
- crigler-najjar syndrome, type i [SNOMED Notion]
DO Cross reference
- Crigler-Najjar syndrome [DO Concept]
Manual BTNT mappings - CISMeF
- Crigler-Najjar syndrome type 2 [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Rare metabolic liver disease [ORDO Disease]
ORDO relation(s)
- Crigler-Najjar syndrome [ORDO Disease]
Record concept(s)
- Crigler Najjar Syndrome, Type 1 [MeSH concept]
- Crigler-Najjar syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- crigler najjar syndrome, type 2 [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- glucuronosyltransferase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Crigler Najjar syndrome [Disease (Nov.)]
- Crigler-Najjar Syndrome [NCIt concept]
- Crigler-Najjar syndrome [MedDRA Preferred Term]
- Crigler-Najjar syndrome [ORDO Disease]
- Crigler-Najjar syndrome [ICD-10 Sub-category (who)]
- Crigler-Najjar syndrome [ICD-10 Sub-category]
- Crigler-Najjar syndrome [DO Concept]
- Crigler-Najjar syndrome [ICD-11 Sub-sub category]
- Crigler-Najjar syndrome (disorder) [SNOMED CT concept]
- Crigler-Najjar syndrome type 1 [ORDO Disease]
- Crigler-Najjar syndrome type 1 [ICD-11 More detail]
- Crigler-Najjar syndrome type I [MedDRA LLT]
- Crigler-Najjar syndrome, type I (disorder) [SNOMED CT concept]
- Crigler-najjar syndrome, type I [OMIM Phenotype]
- crigler-najjar syndrome, nos [SNOMED Notion]
- crigler-najjar syndrome, type i [SNOMED Notion]
Validated automatic mappings to BTNT
- Crigler-Najjar syndrome type 1 [ICD-11 More detail]
- Crigler-Najjar syndrome, type I (disorder) [SNOMED CT concept]

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