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

13984211000172111 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) Belgian module (core metadata concept)

13984221000172118 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) Belgian module (core metadata concept)

13984231000172115 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) Belgian module (core metadata concept)

4051511000172114 IRAK4-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4051521000172116 deficiëntie van interleukine-1-receptor-geassocieerde kinase-4 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
Interleukin-1 receptor-associated kinase 4 deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Interleukin-1 receptor-associated kinase 4 deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets