hyperbilirubinemia, hereditary

Preferred Label : hyperbilirubinemia, hereditary;

MeSH definition : Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood.;

MeSH synonym : hereditary hyperbilirubinemia; hereditary hyperbilirubinemias; hyperbilirubinemias, hereditary;

MeSH hyponym : rotor syndrome; Syndrome, Rotor; Hyperbilirubinemia, Rotor Type; Rotor Type Hyperbilirubinemia;

MeSH annotation : do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Détails

Origin ID

D006933;

UMLS CUI

C0020435;

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)
- Hyperbilirubinemia, rotor type [OMIM Phenotype]
- Other disorders of bilirubin metabolism [ICD-10 Sub-category]
- Other disorders of bilirubin metabolism [ICD-10 Sub-category (who)]
- Rotor disease [PASCAL descriptor]
- Rotor syndrome [ICD-11 More detail]
- Rotor syndrome [ORDO Disease]
- Rotor syndrome (disorder) [SNOMED CT concept]
- Rotor's syndrome [MedDRA Preferred Term]
- bilirubin metabolic disorder [DO Concept]
- rotor syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Hereditary Hyperbilirubinemia [NCIt concept]
DO Cross reference
- bilirubin metabolic disorder [DO Concept]
Manual NTBT mappings (CISMeF)
- Rare metabolic liver disease [ORDO Disease]
MeSH Descriptor(s) used for indexing
- hyperbilirubinemia [MeSH Descriptor]
Record concept(s)
- hyperbilirubinemia, hereditary [MeSH concept]
- rotor syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- hyperbilirubinemia, conjugated, type III [MeSH Supplementary Concept]
- hyperbilirubinemia, shunt [MeSH Supplementary Concept]
- hyperbilirubinemia, transient familial neonatal [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- hyperbilirubinemia [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary Hyperbilirubinemia [NCIt concept]

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