Crigler-Najjar syndrome type 1

Preferred Label : Crigler-Najjar syndrome type 1;

ICD-11 definition : Crigler-Najjar syndrome type 1 is the most severe form ofCrigler-Najjar syndrome, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).;

ICD-11 synonym : Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Bilirubin glucuronyltransferase deficiency; Bilirubin-UGT deficiency type 1; Hereditary unconjugated hyperbilirubinaemia type 1; UGT deficiency type 1; CNS1 - [Crigler-Najjar syndrome type 1];

ICD-11 acronym : CNS1;

Details

Origin ID

1098453659;

UMLS CUI

C0010324;

Currated CISMeF NLP mapping
- Crigler-Najjar syndrome type 1 [ORDO Disease]
- 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, type i [SNOMED Notion]
False automatic mappings
- CNS 1 [NCIt concept]
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 [DO Concept]
- Crigler-Najjar syndrome [ICD-10 Sub-category]
- Crigler-Najjar syndrome [MedDRA Preferred Term]
- Crigler-Najjar syndrome [MeSH concept]
- 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 (disorder) [SNOMED CT concept]
- Crigler-najjar syndrome, type I [OMIM Phenotype]
- crigler-najjar syndrome [MeSH Descriptor]
- crigler-najjar syndrome, nos [SNOMED Notion]
- crigler-najjar syndrome, type i [SNOMED Notion]
Validated automatic mappings to NTBT
- Crigler-Najjar Syndrome [NCIt concept]
- Crigler-Najjar syndrome [MedDRA Preferred Term]
- Crigler-Najjar syndrome [DO Concept]
- Crigler-Najjar syndrome [ORDO Disease]
- Crigler-Najjar syndrome [MeSH concept]
- Crigler-Najjar syndrome [ICD-10 Sub-category (who)]
- Crigler-Najjar syndrome (disorder) [SNOMED CT concept]
- crigler-najjar syndrome [MeSH Descriptor]
- crigler-najjar syndrome, nos [SNOMED Notion]

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