NALP12-Associated Hereditary Periodic Fever Syndrome

Preferred Label : NALP12-Associated Hereditary Periodic Fever Syndrome;

NCIt synonyms : NLRP12-Associated Hereditary Periodic Fever Syndrome;

Alternative definition : NICHD: An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.;

Details

Origin ID

C119043;

UMLS CUI

C2673198;

Automatic exact mappings (from CISMeF team)
- NLRP12-associated hereditary periodic fever syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Familial cold autoinflammatory syndrome 2 [OMIM Phenotype]
- NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) [SNOMED CT concept]
- NLRP12-associated hereditary periodic fever syndrome [ORDO Disease]
- familial cold autoinflammatory syndrome 2 [DO Concept]
- familial cold autoinflammatory syndrome 2 [MeSH Supplementary Concept]
- familial cold autoinflammatory syndrome 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial cold autoinflammatory syndrome 2 [OMIM Phenotype]
- NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) [SNOMED CT concept]
- familial cold autoinflammatory syndrome 2 [MeSH Supplementary Concept]
- familial cold autoinflammatory syndrome 2 [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]
disease_mapped_to_gene
- NLRP12 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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