Atransferrinemia

Preferred Label : Atransferrinemia;

NCIt synonyms : Hereditary Atransferrinemia; Congenital Atransferrinemia; Familial Hypotransferrinemia;

NCIt definition : An extremely rare iron overload disorder caused by mutation in the structural gene for transferrin (TF gene). It is characterized by hypochromic microcytic anemia and hemosiderosis.;

Details

Origin ID

C125693;

UMLS CUI

C0521802;

Currated CISMeF NLP mapping
- Atransferrinaemia [ICD-11 More detail]
- Atransferrinemia [OMIM Phenotype]
- Atransferrinemia [HPO term]
- Congenital atransferrinaemia [ICD-11 More detail]
- Congenital atransferrinaemia [MedDRA LLT]
- Congenital atransferrinemia [ORDO Disease]
- Congenital atransferrinemia [MeSH concept]
- Congenital atransferrinemia [MedDRA LLT]
- Congenital atransferrinemia (disorder) [SNOMED CT concept]
- atransferrinemia [DO Concept]
- atransferrinemia [Disease (Nov.)]
- congenital atransferrinemia [MeSH Supplementary Concept]
- congenital atransferrinemia [SNOMED Notion]
DO Cross reference
- atransferrinemia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Atransferrinaemia [ICD-11 More detail]
- Atransferrinemia [OMIM Phenotype]
- Atransferrinemia [HPO term]
- Congenital atransferrinaemia [MedDRA LLT]
- Congenital atransferrinemia [ORDO Disease]
- Congenital atransferrinemia [MeSH concept]
- Congenital atransferrinemia [MedDRA LLT]
- Congenital atransferrinemia (disorder) [SNOMED CT concept]
- atransferrinemia [DO Concept]
- atransferrinemia [Disease (Nov.)]
- congenital atransferrinemia [SNOMED Notion]
- congenital atransferrinemia [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TF Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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