1229941002: Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C 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 CD45 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 CD45 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 CD45 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 CD45 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 CD45 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 CD45 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 CD45 deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

5065848019 Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency en Synonym Active Initial character case insensitive SNOMED CT core

5065849010 Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency en Synonym Active Initial character case insensitive SNOMED CT core

5065850010 Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

5065851014 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 on the CD45 gene on chromosome 1q31. 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 CD45 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 CD45 deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency	Finding site	Body system structure	true	Inferred relationship	Some	1
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency	Pathological process	Abnormal immune process	true	Inferred relationship	Some	1

Inbound Relationships

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Characteristic

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Reference Sets

Clinical finding foundation reference set

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Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5065848019	Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5065849010	Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5065850010	Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5065851014	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 on the CD45 gene on chromosome 1q31.	en	Definition	Active	Case sensitive	SNOMED CT core