Hyperbilirubinemia, transient familial neonatal

Preferred Label : Hyperbilirubinemia, transient familial neonatal;

Symbol : HBLRTFN;

CISMeF acronym : HBLRTFN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lucey-driscoll syndrome;

Included titles and symbols : Breast milk jaundice;

Inheritance : Autosomal recessive;

Prefixed ID : #237900;

Details

Origin ID

237900;

UMLS CUI

C0270210;

Automatic exact mappings (from CISMeF team)
- Breast Milk Jaundice [NCIt concept]
- Breast milk jaundice [MedDRA LLT]
- Neonatal jaundice due to delayed conjugation from breast milk inhibitor (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Lucey-Driscoll syndrome (disorder) [SNOMED CT concept]
- Transient familial neonatal hyperbilirubinemia [ORDO Disease]
- hyperbilirubinemia, transient familial neonatal [MeSH concept]
- hyperbilirubinemia, transient familial neonatal [MeSH Supplementary Concept]
- transient familial neonatal hyperbilirubinemia [SNOMED Notion]
Genes related to phenotype
- Udp-glycosyltransferase 1 family, polypeptide a1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral palsy [HPO term]
- Jaundice [HPO term]
- Kernicterus [HPO term]
- Neonatal unconjugated hyperbilirubinemia [HPO term]
ORDO concept(s)
- Transient familial neonatal hyperbilirubinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lucey-Driscoll syndrome (disorder) [SNOMED CT concept]
- Transient familial neonatal hyperbilirubinemia [ORDO Disease]
- hyperbilirubinemia, transient familial neonatal [MeSH Supplementary Concept]
- hyperbilirubinemia, transient familial neonatal [MeSH concept]
- transient familial neonatal hyperbilirubinemia [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients