Hemochromatosis, neonatal

Preferred Label : Hemochromatosis, neonatal;

CISMeF acronym : NHC; NH;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Neonatal hepatitis; Giant cell hepatitis; Alloimmune hepatitis, congenital; NH; NHC;

Description : Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001).;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Increased serum iron; Increased transferrin saturation; Increased ferritin; Hypoglycemia;

Prefixed ID : 231100;

Details

Origin ID

231100;

UMLS CUI

C0268059;

Automatic exact mappings (from CISMeF team)
- Giant cell hepatitis [PASCAL descriptor]
- Giant cell hepatitis [HPO term]
- HEPATITIS NEONATAL [WHO-ART Preferred Term]
- HMGN4 wt Allele [NCIt concept]
- Hepatitis neonatal [MedDRA Preferred Term]
- High Mobility Group Nucleosome-Binding Domain-Containing Protein 4 [NCIt concept]
- Neonatal Hepatitis [NCIt concept]
- Neonatal hepatitis (disorder) [SNOMED CT concept]
- New Hampshire [NCIt concept]
- No history of (contextual qualifier) (qualifier value) [SNOMED CT concept]
- neonatal hepatitis [Radlex concept]
- neonatal hepatitis [SNOMED Notion]
Currated CISMeF NLP mapping
- Neonatal Hemochromatosis [NCIt concept]
- Neonatal haemochromatosis [ICD-11 More detail]
- Neonatal haemochromatosis [MedDRA Preferred Term]
- Neonatal hemochromatosis [MedDRA LLT]
- Neonatal hemochromatosis [MeSH concept]
- Neonatal hemochromatosis [ORDO Disease]
- Neonatal hemochromatosis (disorder) [SNOMED CT concept]
- neonatal hemochromatosis [MeSH Supplementary Concept]
- neonatal hemochromatosis [SNOMED Notion]
DO Cross reference
- hemochromatosis [DO Concept]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormality of iron homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholestasis [HPO term]
- Cirrhosis [HPO term]
- Congenital onset [HPO term]
- Hepatic failure [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatocellular necrosis [HPO term]
- Hypoglycemia [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Increased serum iron [HPO term]
- Intrauterine growth retardation [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Oligohydramnios [HPO term]
- Onset in utero [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Rapidly progressive [HPO term]
ORDO concept(s)
- Neonatal hemochromatosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neonatal Hemochromatosis [NCIt concept]
- Neonatal haemochromatosis [ICD-11 More detail]
- 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]

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