1229940001: Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency

\Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency
\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency
\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency

\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5065844017 Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency en Synonym Active Initial character case insensitive SNOMED CT core

5065845016 Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

5065846015 Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency en Synonym Active Initial character case insensitive SNOMED CT core

5065847012 A rare monogenic primary immunodeficiency disorder with characteristics of lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. Caused by homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency	Is a	Autosomal recessive SCID (severe combined immunodeficiency disease)	true	Inferred relationship	Some
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency	Finding site	Body system structure	true	Inferred relationship	Some	1
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency	Pathological process	Abnormal immune process	true	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
5065844017	Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5065845016	Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5065846015	Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5065847012	A rare monogenic primary immunodeficiency disorder with characteristics of lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. Caused by homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13.	en	Definition	Active	Case sensitive	SNOMED CT core