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

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

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe combined immunodeficiency disease (disorder)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency

\Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\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 severe combined immunodeficiency disease (disorder)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency

\Congenital disease (disorder)\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency

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

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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

14648201000172114 déficit immunitaire combiné sévère T-B+ par déficit en JAK3 (janus kinase-3) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

14648211000172112 immunodéficience combinée sévère avec absence de lymphocytes T et présence de lymphocytes B par déficit en JAK3 (janus kinase-3) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

14648221000172119 DICS (déficit immunitaire combiné sévère) T-B+ par déficit en JAK3 (janus kinase-3) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4889101000172111 SCID met JAK3 mutatie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4889111000172114 SCID type JAK3 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4889121000172116 T-cel negatieve en B-cel positieve 'severe combined immundeficiency' door deficiëntie van janus kinase-3 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

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	true	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Belgian subset for medical problems in patient health records

Back to Start

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
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
14648201000172114	déficit immunitaire combiné sévère T-B+ par déficit en JAK3 (janus kinase-3)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14648211000172112	immunodéficience combinée sévère avec absence de lymphocytes T et présence de lymphocytes B par déficit en JAK3 (janus kinase-3)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14648221000172119	DICS (déficit immunitaire combiné sévère) T-B+ par déficit en JAK3 (janus kinase-3)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4889101000172111	SCID met JAK3 mutatie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4889111000172114	SCID type JAK3	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4889121000172116	T-cel negatieve en B-cel positieve 'severe combined immundeficiency' door deficiëntie van janus kinase-3	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)