190997006: ernstige gecombineerde immunodeficiëntie met laag aantal T- en B-cellen (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\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 foetus and/or newborn\Congenital disease (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

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	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
6538451000146117	ernstige gecombineerde immuundeficiëntie met laag aantal T- en B-cellen	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6538461000146119	'severe combined immunodeficiency' met laag aantal T- en B-cellen	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6538471000146113	SCID met laag aantal T- en B-cellen	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7069041000146112	ernstige gecombineerde immunodeficiëntie met laag aantal T- en B-cellen (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7069601000146117	ernstige gecombineerde immunodeficiëntie met laag aantal T- en B-cellen	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)