1186715006: Combined immunodeficiency due to CD70 deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary cancer-predisposing syndrome\Combined immunodeficiency due to CD70 deficiency (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined immunodeficiency due to CD70 deficiency (disorder)

\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Combined immunodeficiency due to CD70 deficiency (disorder)

\Disorder of hematopoietic cell proliferation (disorder)\Lymphoproliferative disorder\Combined immunodeficiency due to CD70 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4667415013 Combined immunodeficiency due to CD70 deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4667416014 Combined immunodeficiency due to CD70 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4667417017 A rare autosomal recessive primary immunodeficiency characterised by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinaemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis and viral encephalitis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4667418010 A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis and viral encephalitis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

10727201000172116 déficience immunitaire combinée due à un déficit en CD70 (cluster of differentiation 70) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

10727211000172118 déficit immunitaire combiné par déficit en CD70 (cluster of differentiation 70) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

10727221000172111 immunodéficience combinée due à un déficit en CD70 (cluster of differentiation 70) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7560401000172119 gecombineerde immuundeficiëntie door deficiëntie van CD-70 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7560411000172116 gecombineerde immunodeficiëntie door CD70-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Combined immunodeficiency due to CD70 deficiency (disorder)	Is a	Lymphoproliferative disorder	true	Inferred relationship	Some
Combined immunodeficiency due to CD70 deficiency (disorder)	Is a	Combined immunodeficiency disease	true	Inferred relationship	Some
Combined immunodeficiency due to CD70 deficiency (disorder)	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Combined immunodeficiency due to CD70 deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Combined immunodeficiency due to CD70 deficiency (disorder)	Associated morphology	Lymphoproliferative disorder (morphologic abnormality)	true	Inferred relationship	Some	1
Combined immunodeficiency due to CD70 deficiency (disorder)	Pathological process (attribute)	Dysregulated host response	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4667415013	Combined immunodeficiency due to CD70 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4667416014	Combined immunodeficiency due to CD70 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4667417017	A rare autosomal recessive primary immunodeficiency characterised by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinaemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis and viral encephalitis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4667418010	A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis and viral encephalitis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10727201000172116	déficience immunitaire combinée due à un déficit en CD70 (cluster of differentiation 70)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10727211000172118	déficit immunitaire combiné par déficit en CD70 (cluster of differentiation 70)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10727221000172111	immunodéficience combinée due à un déficit en CD70 (cluster of differentiation 70)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7560401000172119	gecombineerde immuundeficiëntie door deficiëntie van CD-70	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7560411000172116	gecombineerde immunodeficiëntie door CD70-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)