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716378008: Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3305732015 Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305733013 Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305734019 Combined immunodeficiency due to ZAP70 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305735018 Combined immunodeficiency due to ZAP70 (Zeta-chain associated protein kinase 70) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5401311016 A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401312011 A very rare, severe, genetic, combined immunodeficiency disorder characterised by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305732015 Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305733013 Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305734019 Combined immunodeficiency due to ZAP70 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305735018 Combined immunodeficiency due to ZAP70 (Zeta-chain associated protein kinase 70) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305736017 A very rare, severe, genetic, combined immunodeficiency disorder with characteristics of lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401311016 A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401312011 A very rare, severe, genetic, combined immunodeficiency disorder characterised by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3436541001000111 Immundefekt, kombinierter, durch ZAP70-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5865621000241114 déficit immunitaire combiné par déficit en ZAP70 (zeta-chain associated protein kinase 70) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5865631000241111 immunodéficience combinée due à un déficit en ZAP70 (zeta-chain associated protein kinase 70) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5865641000241118 déficience immunitaire combinée due à un déficit en ZAP70 (zeta-chain associated protein kinase 70) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5865621000241114 déficit immunitaire combiné par déficit en ZAP70 (zeta-chain associated protein kinase 70) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5865631000241111 immunodéficience combinée due à un déficit en ZAP70 (zeta-chain associated protein kinase 70) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5865641000241118 déficience immunitaire combinée due à un déficit en ZAP70 (zeta-chain associated protein kinase 70) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3436541001000111 Immundefekt, kombinierter, durch ZAP70-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder) Due to Deficiency of Zeta-chain associated protein kinase 70 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder) Is a Autosomal recessive SCID (severe combined immunodeficiency disease) true Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder) Finding site Body system structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder) Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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