124327008: Deficiency of mevalonate kinase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of mevalonate kinase

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

204052010 Deficiency of mevalonate kinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727961019 Deficiency of mevalonate kinase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1220693010 Mevalonate kinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4772381000241113 déficit en mévalonate kinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3388731001000110 Mevalonatkinase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of mevalonate kinase	Is a	Deficiency of transferase	true	Inferred relationship	Some
Deficiency of mevalonate kinase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare, severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.	Is a	True	Deficiency of mevalonate kinase	Inferred relationship	Some
A rare autoinflammatory disease and form of mevalonate kinase deficiency (MKD), characterised by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhoea, arthralgia and skin manifestations). The disease usually begins in the first year of life and rarely after 5 years of age. HIDS is an inherited syndrome caused by mutations in the mevalonate kinase (MVK) gene (12q24). These MVK mutations lead to reduced, but not abolished enzyme activity. This in turn leads to impaired control of the production of inflammatory mediators, which in turn cause inflammatory (fever) attacks. The disease follows an autosomal recessive pattern of inheritance.	Is a	True	Deficiency of mevalonate kinase	Inferred relationship	Some

This concept is not in any reference sets