699869003: deficiëntie van interleukine-1-receptor-geassocieerde kinase-4 (aandoening)

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

697651000146117 IRAK4-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8602521000146116 deficiëntie van interleukine-1-receptor-geassocieerde kinase-4 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8635151000146119 deficiëntie van interleukine-1-receptor-geassocieerde kinase-4 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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
Interleukin-1 receptor-associated kinase 4 deficiency	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets