190997006: Severe combined immunodeficiency with low T- and B-cell numbers (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\Severe combined immunodeficiency with low T- and B-cell numbers

\Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers
\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers
\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers

\Disorder of body system\Disorder of immune structure (disorder)\Severe combined immunodeficiency with low T- and B-cell numbers
\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers

\Congenital disease (disorder)\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers

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 with low T- and B-cell numbers	Is a	Severe combined immunodeficiency disease	true	Inferred relationship	Some
Severe combined immunodeficiency with low T- and B-cell numbers	Severity	Severe (severity modifier) (qualifier value)	false	Inferred relationship	Some
Severe combined immunodeficiency with low T- and B-cell numbers	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
Severe combined immunodeficiency with low T- and B-cell numbers	Occurrence	Congenital	true	Inferred relationship	Some	2
Severe combined immunodeficiency with low T- and B-cell numbers	Is a	Disorder of immune structure (disorder)	true	Inferred relationship	Some
Severe combined immunodeficiency with low T- and B-cell numbers	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Severe combined immunodeficiency with low T- and B-cell numbers	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)	Is a	True	Severe combined immunodeficiency with low T- and B-cell numbers	Inferred relationship	Some
Severe combined immunodeficiency with hypereosinophilia (disorder)	Is a	True	Severe combined immunodeficiency with low T- and B-cell numbers	Inferred relationship	Some
Severe combined immunodeficiency due to CTPS1 deficiency	Is a	True	Severe combined immunodeficiency with low T- and B-cell numbers	Inferred relationship	Some
Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency	Is a	True	Severe combined immunodeficiency with low T- and B-cell numbers	Inferred relationship	Some
Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder)	Is a	True	Severe combined immunodeficiency with low T- and B-cell numbers	Inferred relationship	Some
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	Is a	True	Severe combined immunodeficiency with low T- and B-cell numbers	Inferred relationship	Some
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)	Is a	True	Severe combined immunodeficiency with low T- and B-cell numbers	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
293705018	Severe combined immunodeficiency with low T- and B-cell numbers	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
574645011	Severe combined immunodeficiency with low T- and B-cell numbers (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5720211000172111	immunodéficience sévère et combinée avec nombre faible en cellules T et B	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4260731000172118	ernstige gecombineerde immunodeficiëntie met laag aantal T- en B-cellen	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4260741000172113	ernstige gecombineerde immuundeficiëntie met laag aantal T- en B-cellen	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4260751000172110	SCID met laag aantal T- en B-cellen	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4260761000172112	'severe combined immunodeficiency' met laag aantal T- en B-cellen	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)