124327008: Deficiency of mevalonate kinase (disorder)

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

5686711000172116 déficit en mévalonate kinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

8996431000172113 syndrome de fièvre récurrente avec hyperimmunoglobulinémie D fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

8996441000172118 syndrome d'hyper-IgD (immunoglobuline D) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7391731000172113 mevalonaatkinasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of mevalonate kinase	Is a	Deficiency of transferase (disorder)	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
Mevalonic aciduria (disorder)	Is a	True	Deficiency of mevalonate kinase	Inferred relationship	Some
Hyperimmunoglobulinemia D with periodic fever (disorder)	Is a	True	Deficiency of mevalonate kinase	Inferred relationship	Some

This concept is not in any reference sets