765188009: Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 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\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency

\Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency
\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency
\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency

\Disorder of body system\Disorder of immune structure\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency
\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\Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency

\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3657381018 Severe combined immunodeficiency due to complete RAG1 (recombination activating gene 1) and/or RAG2 (recombination activating gene 2) deficiency en Synonym Active Initial character case insensitive SNOMED CT core

3657382013 SCID (severe combined immunodeficiency) due to complete RAG1/2 deficiency en Synonym Active Case sensitive SNOMED CT core

3657384014 Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency en Synonym Active Initial character case insensitive SNOMED CT core

3657386011 Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency en Synonym Active Case insensitive SNOMED CT core

3657387019 Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3657379015 A rare genetic T cell negative B cell negative severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial microorganisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins, some patients may have eosinophilia. en Definition Active Case sensitive SNOMED CT core

3657385010 A rare genetic T cell negative B cell negative severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial microorganisms, as well as skin rashes, chronic diarrhoea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins, some patients may have eosinophilia. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency	Pathological process	Abnormal immune process	true	Inferred relationship	Some	2
Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency	Finding site	Structure of immune system	true	Inferred relationship	Some	1
Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency	Is a	Severe combined immunodeficiency with low T- and B-cell numbers	true	Inferred relationship	Some
Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3657381018	Severe combined immunodeficiency due to complete RAG1 (recombination activating gene 1) and/or RAG2 (recombination activating gene 2) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3657382013	SCID (severe combined immunodeficiency) due to complete RAG1/2 deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3657384014	Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3657386011	Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3657387019	Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3657379015	A rare genetic T cell negative B cell negative severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial microorganisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins, some patients may have eosinophilia.	en	Definition	Active	Case sensitive	SNOMED CT core
3657385010	A rare genetic T cell negative B cell negative severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial microorganisms, as well as skin rashes, chronic diarrhoea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins, some patients may have eosinophilia.	en	Definition	Active	Case sensitive	SNOMED CT core