111587007: ernstige gecombineerde immunodeficiëntie door afwezigheid van interleukine-2-receptor (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\SCID due to absent IL-2 receptor

\Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\SCID due to absent IL-2 receptor
\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\SCID due to absent IL-2 receptor
\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\SCID due to absent IL-2 receptor

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\SCID due to absent IL-2 receptor

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\SCID due to absent IL-2 receptor

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
SCID due to absent IL-2 receptor	Is a	Severe combined immunodeficiency disease	true	Inferred relationship	Some
SCID due to absent IL-2 receptor	Occurrence	Congenital	true	Inferred relationship	Some	2
SCID due to absent IL-2 receptor	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
SCID due to absent IL-2 receptor	Severity	Severe	false	Inferred relationship	Some
SCID due to absent IL-2 receptor	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
SCID due to absent IL-2 receptor	Finding site	Body system structure	true	Inferred relationship	Some	1
SCID due to absent IL-2 receptor	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
178840018	SCID due to absent IL-2 receptor	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2618795018	Severe combined immunodeficiency (SCID) due to absent IL-2 receptor	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913367015	Severe combined immunodeficiency due to absent interleukin-2 receptor (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914256013	Severe combined immunodeficiency due to absent interleukin-2 receptor	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6530961000146113	ernstige gecombineerde immuundeficiëntie door afwezigheid van interleukine-2-receptor	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6530981000146117	SCID door afwezigheid van IL-2-receptor	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6530991000146115	'severe combined immunodeficiency' door afwezigheid van IL-2-receptor	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7069141000146113	ernstige gecombineerde immunodeficiëntie door afwezigheid van interleukine-2-receptor (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7069521000146112	ernstige gecombineerde immunodeficiëntie door afwezigheid van interleukine-2-receptor	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)