409709004: anomalie chromosomique (trouble)

SNOMED CT Concept\constatation clinique\Disease\anomalie chromosomique

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
anomalie chromosomique	est un(e) (attribut)	trouble selon la localisation corporelle	false	Inferred relationship	Some
anomalie chromosomique	localisation d'une constatation (attribut)	Chromosome structure (cell structure)	false	Inferred relationship	Some
anomalie chromosomique	est un(e) (attribut)	Disease	true	Inferred relationship	Some
anomalie chromosomique	est un(e) (attribut)	trouble selon la localisation corporelle	false	Inferred relationship	Some
anomalie chromosomique	localisation d'une constatation (attribut)	Chromosome structure (cell structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Transient congenital hypothyroidism due to dual oxidase 2 mutation (disorder)	Due to	True	anomalie chromosomique	Inferred relationship	Some	2
Catecholaminergic polymorphic ventricular tachycardia due to calsequestrin mutation (disorder)	Due to	True	anomalie chromosomique	Inferred relationship	Some	3
Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)	Due to	True	anomalie chromosomique	Inferred relationship	Some	3
maladie chromosomique congénitale	est un(e) (attribut)	False	anomalie chromosomique	Inferred relationship	Some
Immunodeficiency associated with chromosomal abnormality	associé à (attribut)	True	anomalie chromosomique	Inferred relationship	Some	1
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	associé à (attribut)	True	anomalie chromosomique	Inferred relationship	Some	2
Chromosome 18 syndromes and antibody deficiency	associé à (attribut)	True	anomalie chromosomique	Inferred relationship	Some	2
Chromosome 22 abnormalities with hypogammaglobulinaemia	associé à (attribut)	True	anomalie chromosomique	Inferred relationship	Some	2
Monosomy 22 and absence of immunoglobulin A	associé à (attribut)	True	anomalie chromosomique	Inferred relationship	Some	2
Deletion of X-chromosome and hypogammaglobulinemia	associé à (attribut)	True	anomalie chromosomique	Inferred relationship	Some	2
Microcephaly, normal intelligence and immunodeficiency	associé à (attribut)	True	anomalie chromosomique	Inferred relationship	Some	3
Triple X syndrome, epilepsy, and hypogammaglobulinemia	associé à (attribut)	True	anomalie chromosomique	Inferred relationship	Some	2
Immunodeficiency associated with 18p syndrome	associé à (attribut)	True	anomalie chromosomique	Inferred relationship	Some	1
syndrome de Bloom (trouble)	associé à (attribut)	True	anomalie chromosomique	Inferred relationship	Some	3
Ataxia-telangiectasia syndrome	associé à (attribut)	True	anomalie chromosomique	Inferred relationship	Some	3
Male infertility of chromosomal origin	Due to	True	anomalie chromosomique	Inferred relationship	Some	2
Macular corneal dystrophy	est un(e) (attribut)	False	anomalie chromosomique	Inferred relationship	Some
Meretoja syndrome (disorder)	est un(e) (attribut)	False	anomalie chromosomique	Inferred relationship	Some
Gelatinous droplike corneal dystrophy (disorder)	est un(e) (attribut)	False	anomalie chromosomique	Inferred relationship	Some
Schnyder crystalline corneal dystrophy (disorder)	est un(e) (attribut)	False	anomalie chromosomique	Inferred relationship	Some
Amniocentesis for possible chromosomal abnormality (procedure)	a pour objet (attribut)	True	anomalie chromosomique	Inferred relationship	Some	4
absence de chromosome sexuel	est un(e) (attribut)	True	anomalie chromosomique	Inferred relationship	Some
Duplication of chromosome	est un(e) (attribut)	True	anomalie chromosomique	Inferred relationship	Some
Autosomal chromosomal disorder (disorder)	est un(e) (attribut)	True	anomalie chromosomique	Inferred relationship	Some
dépistage d'une anomalie chromosomique	a pour objet (attribut)	True	anomalie chromosomique	Inferred relationship	Some	2
Extra unidentified structurally abnormal chromosome (disorder)	est un(e) (attribut)	True	anomalie chromosomique	Inferred relationship	Some
Unbalanced translocation of chromosome (disorder)	est un(e) (attribut)	True	anomalie chromosomique	Inferred relationship	Some
Balanced rearrangement and structural marker	est un(e) (attribut)	True	anomalie chromosomique	Inferred relationship	Some
Unbalanced translocation and insertion	est un(e) (attribut)	True	anomalie chromosomique	Inferred relationship	Some
Fetus with chromosomal abnormality	est un(e) (attribut)	True	anomalie chromosomique	Inferred relationship	Some
Foetal chromosomal abnormality screening	a pour objet (attribut)	True	anomalie chromosomique	Inferred relationship	Some	3
Sensorineural deafness and male infertility	Due to	True	anomalie chromosomique	Inferred relationship	Some	4
maladie chromosomique congénitale	est un(e) (attribut)	True	anomalie chromosomique	Inferred relationship	Some
Balanced translocation of chromosome (disorder)	est un(e) (attribut)	True	anomalie chromosomique	Inferred relationship	Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder)	Due to	False	anomalie chromosomique	Inferred relationship	Some	1
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder)	Due to	True	anomalie chromosomique	Inferred relationship	Some	2
Primary immunodeficiency syndrome due to p14 deficiency (disorder)	Due to	True	anomalie chromosomique	Inferred relationship	Some	1
X-linked mendelian susceptibility to mycobacterial disease (disorder)	Due to	False	anomalie chromosomique	Inferred relationship	Some	1
syndrome immuno-neurologique lié à l'X	Due to	False	anomalie chromosomique	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder)	associé à (attribut)	False	anomalie chromosomique	Inferred relationship	Some	2
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder)	Due to	False	anomalie chromosomique	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder)	Due to	False	anomalie chromosomique	Inferred relationship	Some	1
Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder)	Due to	True	anomalie chromosomique	Inferred relationship	Some	2
syndrome d'entéropathie et endocrinopathie auto-immunes-susceptibilité aux infections chroniques	Due to	True	anomalie chromosomique	Inferred relationship	Some	3
Dementia due to chromosomal anomaly (disorder)	Due to	True	anomalie chromosomique	Inferred relationship	Some	2
FADD-related immunodeficiency	Due to	True	anomalie chromosomique	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder)	Due to	False	anomalie chromosomique	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder)	Due to	False	anomalie chromosomique	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder)	Due to	False	anomalie chromosomique	Inferred relationship	Some	1
Neutrophil immunodeficiency syndrome (disorder)	Due to	True	anomalie chromosomique	Inferred relationship	Some	1
RAS-associated autoimmune leukoproliferative disease (disorder)	Due to	True	anomalie chromosomique	Inferred relationship	Some	2
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder)	associé à (attribut)	False	anomalie chromosomique	Inferred relationship	Some	5
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Due to	True	anomalie chromosomique	Inferred relationship	Some	2
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	associé à (attribut)	True	anomalie chromosomique	Inferred relationship	Some	3
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)	Due to	False	anomalie chromosomique	Inferred relationship	Some	1
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder)	Due to	False	anomalie chromosomique	Inferred relationship	Some	1
Anhidrotic ectodermal dysplasia with immune deficiency (disorder)	associé à (attribut)	True	anomalie chromosomique	Inferred relationship	Some	4
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)	Due to	False	anomalie chromosomique	Inferred relationship	Some	1
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder)	Due to	False	anomalie chromosomique	Inferred relationship	Some	1
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Due to	False	anomalie chromosomique	Inferred relationship	Some	1
Sporadic Blau syndrome (disorder)	Due to	False	anomalie chromosomique	Inferred relationship	Some	2
Idiopathic CD4 lymphocytopenia (disorder)	Due to	True	anomalie chromosomique	Inferred relationship	Some	2
Male infertility with teratozoospermia due to single gene mutation (disorder)	Due to	False	anomalie chromosomique	Inferred relationship	Some	4
Constitutional mismatch repair deficiency syndrome (disorder)	Due to	True	anomalie chromosomique	Inferred relationship	Some	2
syndrome d'anémie sidéroblastique congénitale, déficit immunitaire à cellules B-fièvre périodique, retard de développement	Due to	True	anomalie chromosomique	Inferred relationship	Some	4
Male infertility with azoospermia due to single gene mutation (disorder)	Due to	False	anomalie chromosomique	Inferred relationship	Some	4
Male infertility with oligozoospermia due to single gene mutation	Due to	False	anomalie chromosomique	Inferred relationship	Some	3
Immunodeficiency due to ficolin 3 deficiency (disorder)	Due to	True	anomalie chromosomique	Inferred relationship	Some	2
Combined immunodeficiency due to OX40 deficiency	Due to	True	anomalie chromosomique	Inferred relationship	Some	2
Susceptibility to respiratory infection associated with CD8alpha chain mutation	Due to	False	anomalie chromosomique	Inferred relationship	Some	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
147651000077112	anomalie chromosomique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
421211000077115	anomalie chromosomique (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)