3439009: ernstige gecombineerde immunodeficiëntie door afwezigheid van perifere T-celrijping (aandoening)

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

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)

\Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)
\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)
\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)	Is a	Severe combined immunodeficiency disease	true	Inferred relationship	Some
Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)	Severity	Severe	false	Inferred relationship	Some
Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)	Finding site	Body system structure	true	Inferred relationship	Some	1
Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Reticular dysgenesis	Is a	True	Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	True	Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
485833013	Combined immunodeficiency associated with maturation pathway defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2913244019	Severe combined immunodeficiency due to absent peripheral T cell maturation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914606012	Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5247170010	SCID (severe combined immunodeficiency) due to absent peripheral T cell maturation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6531571000146119	'severe combined immunodeficiency' door defect in rijpingstraject	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6531581000146117	ernstige gecombineerde immuundeficiëntie door afwezigheid van perifere T-celrijping	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6531591000146115	SCID door afwezigheid van perifere T-celrijping	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7069111000146112	ernstige gecombineerde immunodeficiëntie door afwezigheid van perifere T-celrijping (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7069551000146115	ernstige gecombineerde immunodeficiëntie door afwezigheid van perifere T-celrijping	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)