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442459007: gecombineerde immunodeficiëntie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2009. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Combined immunodeficiency disease	Is a	Primary immune deficiency disorder	true	Inferred relationship	Some
Combined immunodeficiency disease	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Combined immunodeficiency disease	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Benign combined immunodeficiency	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Severe combined immunodeficiency disease	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Vici syndrome (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Immuno-osseous dysplasia	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Laron syndrome with immunodeficiency (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to OX40 deficiency	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Susceptibility to respiratory infection associated with CD8alpha chain mutation	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Autosomal recessive lymphoproliferative disease (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to STK4 deficiency	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Severe dermatitis, multiple allergies, metabolic wasting syndrome	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
T-cell receptor alpha-beta-positive T-cell deficiency	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
RIDDLE syndrome	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Pancytopenia due to IKZF1 mutations	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency with granulomatosis	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to interleukin 21 receptor deficiency (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to moesin deficiency (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to GINS complex subunit 1 deficiency (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to transferrin receptor deficiency (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
BENTA disease	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to CARMIL2 deficiency	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to ITK deficiency	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to CD70 deficiency (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to DOCK8 deficiency	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency, enteropathy spectrum	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Primary immunodeficiency with multifaceted aberrant lymphoid immunity	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Dedicator of cytokinesis 2 deficiency (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to RELA haploinsufficiency (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder)	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to FCHO1 deficiency	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some
Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency	Is a	True	Combined immunodeficiency disease	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2819524017	Combined immunodeficiency disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2819525016	Combined immunodeficiency disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
8790661000146116	gecombineerde immunodeficiëntie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8790671000146110	gecombineerde immunodeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)