1290916005: haplo-insufficiëntie van A20 (aandoening)

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

\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Haploinsufficiency of A20

\Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Haploinsufficiency of A20

\Disorder of body system\Disorder of immune structure (disorder)\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Haploinsufficiency of A20
\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Haploinsufficiency of A20

\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Haploinsufficiency of A20

\Systemic disease\Haploinsufficiency of A20

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5276585012 Haploinsufficiency of A20 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5276586013 Haploinsufficiency of A20 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5276587016 HA20 (haploinsufficiency A20) en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5276588014 A20 haploinsufficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

14603551000146117 haplo-insufficiëntie van A20 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14603561000146119 HA20 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14603571000146113 haplo-insufficiëntie van A20 (aandoening) nl Fully specified name Active Only initial character 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
Haploinsufficiency of A20	Is a	Systemic disease	true	Inferred relationship	Some
Haploinsufficiency of A20	Is a	Monogenic autoinflammatory syndrome (disorder)	true	Inferred relationship	Some
Haploinsufficiency of A20	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
Haploinsufficiency of A20	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	1
Haploinsufficiency of A20	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary paediatric Behçet-like disease	Is a	True	Haploinsufficiency of A20	Inferred relationship	Some

This concept is not in any reference sets