699869003: Interleukin-1 receptor-associated kinase 4 deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Interleukin-1 receptor-associated kinase 4 deficiency

\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Interleukin-1 receptor-associated kinase 4 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2985970019 Interleukin-1 receptor-associated kinase 4 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2986106017 Interleukin-1 receptor-associated kinase 4 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2986145010 IRAK-4 - Interleukin-1 receptor-associated kinase 4 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2985970019 Interleukin-1 receptor-associated kinase 4 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2985970019 Interleukin-1 receptor-associated kinase 4 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2986106017 Interleukin-1 receptor-associated kinase 4 deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2986106017 Interleukin-1 receptor-associated kinase 4 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2986145010 IRAK-4 - Interleukin-1 receptor-associated kinase 4 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3387841001000111 Immundefekt durch Interleukin-1-Rezeptor-assoziierten Kinase-4-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6335901000241116 déficit immunitaire par déficit en IRAK-4 (interleukin-1 receptor-associated kinase 4) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6335911000241119 déficience immunitaire due à un déficit en IRAK-4 (interleukin-1 receptor-associated kinase 4) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6335921000241114 immunodéficience due à un déficit en IRAK-4 (interleukin-1 receptor-associated kinase 4) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6335901000241116 déficit immunitaire par déficit en IRAK-4 (interleukin-1 receptor-associated kinase 4) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6335911000241119 déficience immunitaire due à un déficit en IRAK-4 (interleukin-1 receptor-associated kinase 4) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6335921000241114 immunodéficience due à un déficit en IRAK-4 (interleukin-1 receptor-associated kinase 4) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3387841001000111 Immundefekt durch Interleukin-1-Rezeptor-assoziierten Kinase-4-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
Interleukin-1 receptor-associated kinase 4 deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Interleukin-1 receptor-associated kinase 4 deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets