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

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency

Status: current, Primitive. 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	Active	Case sensitive	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	Initial character case insensitive	SNOMED CT core
3311209018	Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3311200019	A form of severe combined immunodeficiency with severe and recurrent infections, associated with diarrhea and failure to thrive. The disease is characterized by a lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. Results from a defect in the JAK3 gene encoding an intracellular tyrosine kinase, the Janus activating kinase 3 required for cytokine-mediated signalling. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
3311201015	A form of severe combined immunodeficiency with severe and recurrent infections, associated with diarrhoea and failure to thrive. The disease is characterised by a lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. Results from a defect in the JAK3 gene encoding an intracellular tyrosine kinase, the Janus activating kinase 3 required for cytokine-mediated signalling. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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