409709004: chromosomale aandoening (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Chromosomal disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosomal disorder (disorder)	Is a	aandoening ingedeeld naar anatomische of verworven lichaamsstructuur (aandoening)	false	Inferred relationship	Some
Chromosomal disorder (disorder)	Finding site	Chromosome structure	false	Inferred relationship	Some
Chromosomal disorder (disorder)	Is a	Disease	true	Inferred relationship	Some
Chromosomal disorder (disorder)	Is a	aandoening ingedeeld naar anatomische of verworven lichaamsstructuur (aandoening)	false	Inferred relationship	Some
Chromosomal disorder (disorder)	Finding site	Chromosome structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital chromosomal disease	Is a	False	Chromosomal disorder (disorder)	Inferred relationship	Some
Immunodeficiency associated with chromosomal abnormality	Associated with	True	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	Associated with	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Chromosome 18 syndromes and antibody deficiency	Associated with	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Chromosome 22 abnormalities with hypogammaglobulinaemia	Associated with	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Monosomy 22 and absence of immunoglobulin A	Associated with	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Deletion of X-chromosome and hypogammaglobulinemia	Associated with	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Microcephaly, normal intelligence and immunodeficiency	Associated with	True	Chromosomal disorder (disorder)	Inferred relationship	Some	3
Triple X syndrome, epilepsy, and hypogammaglobulinemia	Associated with	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
18-p syndrome with associated immunodeficiency (disorder)	Associated with	True	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Bloom syndrome	Associated with	True	Chromosomal disorder (disorder)	Inferred relationship	Some	3
Ataxia-telangiectasia syndrome	Associated with	True	Chromosomal disorder (disorder)	Inferred relationship	Some	3
Male infertility of chromosomal origin	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Macular corneal dystrophy	Is a	False	Chromosomal disorder (disorder)	Inferred relationship	Some
Meretoja syndrome	Is a	False	Chromosomal disorder (disorder)	Inferred relationship	Some
Gelatinous droplike corneal dystrophy (disorder)	Is a	False	Chromosomal disorder (disorder)	Inferred relationship	Some
Schnyder crystalline corneal dystrophy	Is a	False	Chromosomal disorder (disorder)	Inferred relationship	Some
Amniocentesis for possible chromosomal abnormality (procedure)	Has focus	True	Chromosomal disorder (disorder)	Inferred relationship	Some	4
Absence of sex chromosome	Is a	True	Chromosomal disorder (disorder)	Inferred relationship	Some
Duplication of chromosome	Is a	True	Chromosomal disorder (disorder)	Inferred relationship	Some
Autosomal chromosomal disorder (disorder)	Is a	True	Chromosomal disorder (disorder)	Inferred relationship	Some
Chromosome abnormality screening	Has focus	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Extra unidentified structurally abnormal chromosome (disorder)	Is a	True	Chromosomal disorder (disorder)	Inferred relationship	Some
Unbalanced translocation of chromosome (disorder)	Is a	True	Chromosomal disorder (disorder)	Inferred relationship	Some
Balanced rearrangement and structural marker (disorder)	Is a	True	Chromosomal disorder (disorder)	Inferred relationship	Some
Unbalanced translocation and insertion	Is a	True	Chromosomal disorder (disorder)	Inferred relationship	Some
Fetus with chromosomal abnormality	Is a	True	Chromosomal disorder (disorder)	Inferred relationship	Some
Foetal chromosomal abnormality screening	Has focus	True	Chromosomal disorder (disorder)	Inferred relationship	Some	3
Sensorineural deafness and male infertility	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	4
Congenital chromosomal disease	Is a	True	Chromosomal disorder (disorder)	Inferred relationship	Some
Balanced translocation of chromosome (disorder)	Is a	True	Chromosomal disorder (disorder)	Inferred relationship	Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder)	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Primary immunodeficiency syndrome due to p14 deficiency (disorder)	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	1
X-linked mendelian susceptibility to mycobacterial disease (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
X-linked immunoneurologic disorder (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder)	Associated with	False	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder)	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	3
Dementia due to chromosomal anomaly (disorder)	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
FADD-related immunodeficiency	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Neutrophil immunodeficiency syndrome (disorder)	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	1
RAS-associated autoimmune leukoproliferative disease (disorder)	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder)	Associated with	False	Chromosomal disorder (disorder)	Inferred relationship	Some	5
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Associated with	True	Chromosomal disorder (disorder)	Inferred relationship	Some	3
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Anhidrotic ectodermal dysplasia with immune deficiency (disorder)	Associated with	True	Chromosomal disorder (disorder)	Inferred relationship	Some	4
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Sporadic Blau syndrome (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Idiopathic CD4 lymphocytopenia (disorder)	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Male infertility with teratozoospermia due to single gene mutation (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	4
Constitutional mismatch repair deficiency syndrome (disorder)	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	4
Male infertility with azoospermia due to single gene mutation (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	4
Male infertility with oligozoospermia due to single gene mutation	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	3
Immunodeficiency due to ficolin 3 deficiency (disorder)	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Combined immunodeficiency due to OX40 deficiency	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Susceptibility to respiratory infection associated with CD8alpha chain mutation	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Transient congenital hypothyroidism due to dual oxidase 2 mutation (disorder)	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Catecholaminergic polymorphic ventricular tachycardia due to calsequestrin mutation (disorder)	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	3
Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	3
Non-invasive prenatal test (procedure)	Has focus	True	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Non-invasive prenatal test for only trisomy 13, 18 and 21	Has focus	True	Chromosomal disorder (disorder)	Inferred relationship	Some	1

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
2465160018	Chromosomal disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2471471017	Chromosomal disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3289702019	Chromosomal anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
731781000146110	chromosoomafwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4979511000146112	chromosomale aandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4979521000146119	chromosomale afwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4979531000146117	chromosomale aandoening (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8703701000146118	Afwijkingen in het aantal of de bouw van de chromosomen, waardoor iemand een bepaalde ziekte of klachten kan krijgen; iemand kan ook een chromosoomafwijking hebben zonder dat hij ziek wordt.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)