31323000: severe combined immunodeficiency (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

\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 foetus and/or newborn\Congenital disease (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

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
autosomaal recessieve agammaglobulinemie	Is a	False	Severe combined immunodeficiency disease	Inferred relationship	Some
X-gebonden ernstige gecombineerde immunodeficiëntie	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
Severe combined immunodeficiency due to absent lymphoid stem cells (disorder)	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
Severe combined immunodeficiency due to absent adenosine deaminase (disorder)	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
Adenosine deaminase deficiency	Is a	False	Severe combined immunodeficiency disease	Inferred relationship	Some
Severe combined immunodeficiency due to absent interleukin-2 production (disorder)	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
Severe combined immunodeficiency due to absent class II human leukocyte antigens (disorder)	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 severe combined immunodeficiency disease (disorder)	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	False	Severe combined immunodeficiency disease	Inferred relationship	Some
T-cell negative B-cell positive severe combined immunodeficiency (disorder)	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
ernstige gecombineerde immunodeficiëntie type januskinase 3	Is a	False	Severe combined immunodeficiency disease	Inferred relationship	Some

This concept is not in any reference sets

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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
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
5244230016	SCID - severe combined immunodeficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
85431000146113	ernstige gecombineerde immunodeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10664221000146113	severe combined immunodeficiency	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10664231000146110	severe combined immunodeficiency (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13672871000146113	SCID	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14126631000146110	SCID, severe combined immunodeficiency; groep ernstige aandoeningen waarbij er iets mis is met de afweer; het kind heeft te weinig van een bepaald type witte bloedcellen en krijgt daardoor makkelijk infecties; vroege opsporing en behandeling kan de ziekte genezen.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)