Neonatal haemochromatosis

Preferred Label : Neonatal haemochromatosis;

ICD-11 definition : Neonatal hemochromatosis is an iron storage disorder of unknown etiology present at birth, and characterized by the association of severe hepatocellular failure with hyperbilirubinemia, signs of hemorrhage, edema, ascites, hypoglycemia, and lactic acidosis with little to no elevation of transaminases.;

Details

Origin ID

1476368232;

UMLS CUI

C0268059;

Currated CISMeF NLP mapping
- Hemochromatosis, neonatal [OMIM Phenotype]
- Neonatal Hemochromatosis [NCIt concept]
- Neonatal haemochromatosis [MedDRA Preferred Term]
- Neonatal hemochromatosis [ORDO Disease]
- Neonatal hemochromatosis [MeSH concept]
- Neonatal hemochromatosis [MedDRA LLT]
- Neonatal hemochromatosis (disorder) [SNOMED CT concept]
- neonatal hemochromatosis [MeSH Supplementary Concept]
- neonatal hemochromatosis [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hemochromatosis, neonatal [OMIM Phenotype]
- Neonatal Hemochromatosis [NCIt concept]
- Neonatal haemochromatosis [MedDRA Preferred Term]
- Neonatal hemochromatosis [MeSH concept]
- Neonatal hemochromatosis [ORDO Disease]
- Neonatal hemochromatosis [MedDRA LLT]
- Neonatal hemochromatosis (disorder) [SNOMED CT concept]
- neonatal hemochromatosis [MeSH Supplementary Concept]
- neonatal hemochromatosis [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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