Aceruloplasminemia

Preferred Label : Aceruloplasminemia;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the CP gene, encoding ceruloplasmin. It is characterized by low concentrations of ceruloplasmin.;

Details

Origin ID

C189281;

UMLS CUI

C0878682;

Automatic exact mappings (from CISMeF team)
- Aceruloplasminemia [ORDO Disease]
- Aceruloplasminemia [MeSH concept]
- Aceruloplasminemia [MedDRA LLT]
- Aceruloplasminemia [OMIM Phenotype]
- Aceruloplasminemia [HPO term]
- familial apoceruloplasmin deficiency [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Acaeruloplasminaemia [ICD-11 More detail]
- Aceruloplasminemia [ORDO Disease]
- Aceruloplasminemia [MeSH concept]
- Aceruloplasminemia [MedDRA LLT]
- Aceruloplasminemia [HPO term]
- Aceruloplasminemia [OMIM Phenotype]
- aceruloplasminemia [DO Concept]
- aceruloplasminemia [Disease (Nov.)]
- familial apoceruloplasmin deficiency [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Deficiency of ferroxidase (disorder) [SNOMED CT concept]
- Familial hypoceruloplasminemia (disorder) [SNOMED CT concept]
- familial hypoceruloplasminemia [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aceruloplasminaemia [MedDRA LLT]
- Aceruloplasminemia [OMIM Phenotype]
- Aceruloplasminemia [MeSH concept]
- Aceruloplasminemia [MedDRA LLT]
- Aceruloplasminemia [HPO term]
- Aceruloplasminemia [ORDO Disease]
- Deficiency of ferroxidase (disorder) [SNOMED CT 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
- CP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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