234632005: immunodeficiëntie bij chromosomale afwijking (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Immunodeficiency associated with chromosomal abnormality	Is a	Immunodeficiency with major anomalies	false	Inferred relationship	Some
Immunodeficiency associated with chromosomal abnormality	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Immunodeficiency associated with chromosomal abnormality	Is a	Primary immune deficiency disorder	true	Inferred relationship	Some
Immunodeficiency associated with chromosomal abnormality	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Immunodeficiency associated with chromosomal abnormality	Associated with	Chromosomal disorder (disorder)	true	Inferred relationship	Some	1
Immunodeficiency associated with chromosomal abnormality	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Chromosome 18 syndromes and antibody deficiency	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Chromosome 22 abnormalities with hypogammaglobulinaemia	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Deletion of X-chromosome and hypogammaglobulinemia	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Microcephaly, normal intelligence and immunodeficiency	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Triple X syndrome, epilepsy, and hypogammaglobulinemia	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
18-p syndrome with associated immunodeficiency (disorder)	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Bloom syndrome	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Ataxia-telangiectasia syndrome	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder)	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Primary immunodeficiency syndrome due to p14 deficiency (disorder)	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
X-linked mendelian susceptibility to mycobacterial disease (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
X-linked immunoneurologic disorder (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder)	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
FADD-related immunodeficiency	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Neutrophil immunodeficiency syndrome (disorder)	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
RAS-associated autoimmune leukoproliferative disease (disorder)	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder)	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Sporadic Blau syndrome (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Idiopathic CD4 lymphocytopenia (disorder)	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Constitutional mismatch repair deficiency syndrome (disorder)	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Immunodeficiency due to ficolin 3 deficiency (disorder)	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Combined immunodeficiency due to OX40 deficiency	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Susceptibility to respiratory infection associated with CD8alpha chain mutation	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
351567012	Immunodeficiency associated with chromosomal abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
622978015	Immunodeficiency associated with chromosomal abnormality (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
8793081000146114	immunodeficiëntie bij chromosomale afwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8793091000146111	immunodeficiëntie bij chromosomale afwijking (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)