Acaeruloplasminaemia

Preferred Label : Acaeruloplasminaemia;

ICD-11 definition : Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.;

ICD-11 synonym : Hereditary caeruloplasmin deficiency;

Details

Origin ID

688027972;

Currated CISMeF NLP mapping
- Aceruloplasminemia [ORDO Disease]
- Aceruloplasminemia [MeSH concept]
- Aceruloplasminemia [OMIM Phenotype]
- Aceruloplasminemia [HPO term]
- Aceruloplasminemia [NCIt concept]
- Aceruloplasminemia [MedDRA LLT]
- Familial hypoceruloplasminemia (disorder) [SNOMED CT concept]
- aceruloplasminemia [DO Concept]
- aceruloplasminemia [Disease (Nov.)]
- familial apoceruloplasmin deficiency [MeSH Supplementary Concept]
- familial hypoceruloplasminemia [SNOMED Notion]
See also inter- (CISMeF)
- Deficiency of ferroxidase (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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