Mevalonate kinase deficiency with recurrent fever

Preferred Label : Mevalonate kinase deficiency with recurrent fever;

ICD-11 definition : Mevalonate kinase [MVK] deficiency with recurrent fever, with or without hyperIgD, is an autoinflammatory disease associated with mutations in the mevalonate kinase gene. This results in clinical attacks of inflammation in the form of fever, lymphadenopathy, enlarged spleen and serositis along with increased acute phase reactants.;

ICD-11 synonym : MVK [mevalonate kinase deficiency] with recurrent fever; Dutch-type periodic fever; HIDS - [Hyper-IgD syndrome]; Hyperimmunoglobulinaemia D with periodic fever; Hyper-IgD syndrome; Hyperimmunoglobinaemia D with recurrent fever;

ICD-11 acronym : HIDS;

Détails

Origin ID

910632716;

UMLS CUI

C0398691;

Currated CISMeF NLP mapping
- Hyper-igd syndrome [OMIM Phenotype]
- Hyperimmunoglobulin D with periodic fever (finding) [SNOMED CT concept]
- Hyperimmunoglobulinemia D with periodic fever [ORDO Disease]
- hyperimmunoglobulinemia D with recurrent fever [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyper IgD syndrome [MedDRA Preferred Term]
- Hyper IgD with periodic fever syndrome [MedDRA LLT]
- Hyper-igd syndrome [OMIM Phenotype]
- Hyperimmunoglobulin D with periodic fever (finding) [SNOMED CT concept]
- Hyperimmunoglobulinemia D with periodic fever [ORDO Disease]
- Hyperimmunoglobulinemia D with periodic fever (disorder) [SNOMED CT concept]
- hyperimmunoglobulinemia D [MeSH concept]
- hyperimmunoglobulinemia D syndrome [Disease (Nov.)]
- hyperimmunoglobulinemia D with recurrent fever [Disease (Nov.)]
Validated automatic mappings to NTBT
- Hyper IgD syndrome [MedDRA Preferred Term]
- Mevalonate Kinase Deficiency [NCIt concept]
- hyperimmunoglobulinemia D syndrome [Disease (Nov.)]
- mevalonate kinase deficiency [MeSH Descriptor]

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

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