familial apoceruloplasmin deficiency

Preferred Label : familial apoceruloplasmin deficiency;

CISMeF synonym : aceruloplasminemia;

MeSH synonym : hereditary hypoceruloplasminemia;

Related MeSH term : Hypoceruloplasminemia; Ceruloplasmin deficiency;

Détails

Origin ID

C536004;

UMLS CUI

C2931082;

Automatic exact mappings (from CISMeF team)
- Aceruloplasminaemia [MedDRA LLT]
- Aceruloplasminemia [NCIt concept]
- Decreased circulating ceruloplasmin concentration [HPO term]
- Hypoceruloplasminemia [PASCAL descriptor]
CISMeF manual mappings
- Aceruloplasminemia [ORDO Disease]
- familial hypoceruloplasminemia [SNOMED Notion]
Currated CISMeF NLP mapping
- Acaeruloplasminaemia [ICD-11 More detail]
- Aceruloplasminemia [HPO term]
- Aceruloplasminemia [MedDRA LLT]
- Aceruloplasminemia [NCIt concept]
- Aceruloplasminemia [OMIM Phenotype]
- Deficiency of ferroxidase (disorder) [SNOMED CT concept]
- Familial hypoceruloplasminemia (disorder) [SNOMED CT concept]
- aceruloplasminemia [DO Concept]
- aceruloplasminemia [Disease (Nov.)]
MeSH term(s) associated for indexing
- ceruloplasmin [MeSH Descriptor]
- iron metabolism disorders [MeSH Descriptor]
- neurodegenerative diseases [MeSH Descriptor]
ORDO relation(s)
- Aceruloplasminemia [ORDO Disease]
Record concept(s)
- Aceruloplasminemia [MeSH concept]
- Familial apoceruloplasmin deficiency [MeSH concept]
See also (suggested by CISMeF)
- apoceruloplasmin [MeSH Supplementary Concept]
- ceruloplasminemia [CISMeF Querying Strategy]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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