Familial cold autoinflammatory syndrome 4

Preferred Label : Familial cold autoinflammatory syndrome 4;

Symbol : FCAS4;

CISMeF acronym : FCAS4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the NLR family, caspase recruitment domain-containing 4 gene (NLRC4, 606831.0003);

Prefixed ID : #616115;

Details

Origin ID

616115;

UMLS CUI

C4015276;

Automatic exact mappings (from CISMeF team)
- NLRC4 wt Allele [NCIt concept]
- NLRC4-related familial cold autoinflammatory syndrome [ORDO Disease]
- familial cold autoinflammatory syndrome 4 [DO Concept]
Currated CISMeF NLP mapping
- NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- familial cold autoinflammatory syndrome 4 [DO Concept]
Genes related to phenotype
- Nlr family, caspase recruitment domain-containing 4 [OMIM gene]
HPO term(s)
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Fever [HPO term]
- Infantile onset [HPO term]
- Urticaria [HPO term]
ORDO concept(s)
- Familial cold urticaria [ORDO Disease]
- NLRC4-related familial cold autoinflammatory syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) [SNOMED CT concept]

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