716871006: Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit 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 due to DNA dependent protein kinase catalytic subunit deficiency

\Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to DNA dependent protein kinase catalytic subunit deficiency
\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to DNA dependent protein kinase catalytic subunit deficiency
\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to DNA dependent protein kinase catalytic subunit deficiency

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to DNA dependent protein kinase catalytic subunit deficiency

\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to DNA dependent protein kinase catalytic subunit deficiency

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1672681000168110 Severe combined immunodeficiency due to DNA dependent protein kinase catalytic subunit deficiency en Synonym Active Initial character case insensitive SNOMED Clinical Terms Australian extension

3307856013 Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3307857016 Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency en Synonym Active Case insensitive SNOMED CT core

3307858014 Severe combined immunodeficiency due to DNA-PKcs deficiency en Synonym Active Initial character case insensitive SNOMED CT core

3307859018 An extremely rare type of severe combined immunodeficiency characterized by the classical signs of severe combined immunodeficiency (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes and cell sensitivity to ionizing radiation. en Definition Active Case sensitive SNOMED CT core

3307860011 An extremely rare type of severe combined immunodeficiency characterised by the classical signs of severe combined immunodeficiency (severe and recurrent infections, diarrhoea, failure to thrive), absence of T and B lymphocytes and cell sensitivity to ionising radiation. 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 DNA dependent protein kinase catalytic subunit deficiency	Pathological process	Abnormal immune process	true	Inferred relationship	Some	3
Severe combined immunodeficiency due to DNA dependent protein kinase catalytic subunit deficiency	Is a	Severe combined immunodeficiency disease	true	Inferred relationship	Some
Severe combined immunodeficiency due to DNA dependent protein kinase catalytic subunit deficiency	Occurrence	Congenital	true	Inferred relationship	Some	2
Severe combined immunodeficiency due to DNA dependent protein kinase catalytic subunit deficiency	Finding site	Body system structure	true	Inferred relationship	Some	1
Severe combined immunodeficiency due to DNA dependent protein kinase catalytic subunit deficiency	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some

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
1672681000168110	Severe combined immunodeficiency due to DNA dependent protein kinase catalytic subunit deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
3307856013	Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3307857016	Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3307858014	Severe combined immunodeficiency due to DNA-PKcs deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3307859018	An extremely rare type of severe combined immunodeficiency characterized by the classical signs of severe combined immunodeficiency (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes and cell sensitivity to ionizing radiation.	en	Definition	Active	Case sensitive	SNOMED CT core
3307860011	An extremely rare type of severe combined immunodeficiency characterised by the classical signs of severe combined immunodeficiency (severe and recurrent infections, diarrhoea, failure to thrive), absence of T and B lymphocytes and cell sensitivity to ionising radiation.	en	Definition	Active	Case sensitive	SNOMED CT core