190993005: Autosomal recessive severe combined immunodeficiency (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 SCID\Autosomal recessive severe combined immunodeficiency (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID\Autosomal recessive severe combined immunodeficiency (disorder)

\Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID\Autosomal recessive severe combined immunodeficiency (disorder)
\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID\Autosomal recessive severe combined immunodeficiency (disorder)
\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID\Autosomal recessive severe combined immunodeficiency (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID\Autosomal recessive severe combined immunodeficiency (disorder)

\Congenital disease (disorder)\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID\Autosomal recessive severe combined immunodeficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

293692018 Autosomal recessive lymphopaenic agammaglobulinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

293693011 Autosomal recessive severe combined immunodeficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

293694017 Autosomal recessive lymphopenic agammaglobulinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

293695016 SCID - Autosomal recessive severe combined immunodeficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

574640018 Autosomal recessive severe combined immunodeficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3884251000052112 autosomalt recessiv svår kombinerad immunbrist sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

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This concept is not in any reference sets