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31323000: Severe combined immunodeficiency disease (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

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

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease

\Congenital disease (disorder)\Congenital immunodeficiency disease\Severe combined immunodeficiency disease

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 disease	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
Severe combined immunodeficiency disease	Is a	Primary immune deficiency disorder	false	Inferred relationship	Some
Severe combined immunodeficiency disease	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Severe combined immunodeficiency disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Severe combined immunodeficiency disease	Severity	Severe	false	Inferred relationship	Some
Severe combined immunodeficiency disease	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Severe combined immunodeficiency disease	Finding site	Body system structure	true	Inferred relationship	Some	2
Severe combined immunodeficiency disease	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Severe combined immunodeficiency disease	Is a	Combined immunodeficiency disease	true	Inferred relationship	Some
Severe combined immunodeficiency disease	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive severe combined immunodeficiency (disorder)	Is a	False	Severe combined immunodeficiency disease	Inferred relationship	Some
X-kopplad svår immunbrist	Is a	False	Severe combined immunodeficiency disease	Inferred relationship	Some
Severe combined immunodeficiency with maternofetal engraftment	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
Benign combined immunodeficiency	Is a	False	Severe combined immunodeficiency disease	Inferred relationship	Some
SCID due to absent IL-2 receptor	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
SCID due to absent lymphoid stem cells	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
SCID due to absent peripheral T cell maturation	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
SCID due to absent adenosine deaminase	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
Adenosine deaminase deficiency	Is a	False	Severe combined immunodeficiency disease	Inferred relationship	Some
SCID due to absent IL-2 production	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
Severe combined immunodeficiency due to absent T cell receptor (disorder)	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
Nezelof's syndrome	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
SCID due to absent class II HLA antigens	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	False	Severe combined immunodeficiency disease	Inferred relationship	Some
Severe combined immunodeficiency with low T- and B-cell numbers	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
Severe combined immunodeficiency with low or normal B-cell numbers	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
Major histocompatibility complex class I deficiency	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
Major histocompatibility complex class II deficiency	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
Combined immunity deficiency NOS	Is a	False	Severe combined immunodeficiency disease	Inferred relationship	Some
Autosomal recessive SCID	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder)	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some

Reference Sets

Medical conditions, alert information reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
52382015	Severe combined immunodeficiency disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
52385018	SCID	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
484841016	SCID - Severe combined immunodeficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
484842011	Severe combined immunodeficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484843018	Combined T-cell and B-cell immunodeficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
762432015	Severe combined immunodeficiency disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
364011000052110	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)
4687341000052115	SCID (Severe combined immunodeficiency)	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)