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718107000: Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency (disorder)


Status: current, Not 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
3311199017 T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311208014 Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311209018 Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5401677017 Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401678010 Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterised by severe and recurrent infections, associated with diarrhoea and failure to thrive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency Due to Genetic mutation false Inferred relationship Some 1
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency Is a Autosomal recessive severe combined immunodeficiency disease (disorder) true Inferred relationship Some
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency Occurrence Congenital true Inferred relationship Some 3
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency Finding site Body system structure true Inferred relationship Some 2
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency Has definitional manifestation Immune system finding false Inferred relationship Some
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 4
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency Is a T-cell negative B-cell positive severe combined immunodeficiency (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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