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409709004: Chromosomal disorder (disorder)

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

Descriptions:

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
2465160018 Chromosomal disorder (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
914491000195117 disturbo cromosomico it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
378051000274112 Chromosomale Krankheit de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
447251000274112 Chromosomale Fehlbildung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
668791000274115 Chromosomale Störung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
668801000274116 Chromosomenstörung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
668811000274119 Chromosomale Erkrankung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
668821000274114 Chromosomenanomalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
668831000274111 Chromosomenaberration de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
147651000077112 anomalie chromosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
147651000077112 anomalie chromosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
914491000195117 disturbo cromosomico it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
378051000274112 Chromosomale Krankheit de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
447251000274112 Chromosomale Fehlbildung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
668791000274115 Chromosomale Störung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
668801000274116 Chromosomenstörung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
668811000274119 Chromosomale Erkrankung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
668821000274114 Chromosomenanomalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
668831000274111 Chromosomenaberration de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3384771001000119 Seltene Chromosomenanomalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

709 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosomal disorder (disorder) Is a trouble selon la localisation corporelle false Inferred relationship Existential restriction modifier (core metadata concept)
Chromosomal disorder (disorder) Finding site Chromosome structure (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Chromosomal disorder (disorder) Is a Disease true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosomal disorder (disorder) Is a trouble selon la localisation corporelle false Inferred relationship Existential restriction modifier (core metadata concept)
Chromosomal disorder (disorder) Finding site Chromosome structure (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital chromosomal disease Is a False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Immunodeficiency associated with chromosomal abnormality Associated with True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Associated with True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosome 18 syndromes and antibody deficiency (disorder) Associated with True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosome 22 abnormalities with hypogammaglobulinaemia Associated with True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Monosomy 22 and absence of immunoglobulin A Associated with True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of X-chromosome and hypogammaglobulinaemia Associated with True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephaly, normal intelligence and immunodeficiency Associated with True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3
Triple X syndrome, epilepsy, and hypogammaglobulinemia Associated with True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
18-p syndrome with associated immunodeficiency (disorder) Associated with True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bloom syndrome Associated with True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3
Ataxia-telangiectasia syndrome Associated with True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3
Male infertility of chromosomal origin Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Macular corneal dystrophy Is a False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Meretoja Is a False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Gelatinous droplike corneal dystrophy Is a False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
dystrophie cornéenne cristalline de Schnyder Is a False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Amniocentesis for possible chromosomal abnormality (procedure) Has focus True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 4
Absence of sex chromosome Is a True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Duplication of chromosome (disorder) Is a True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal chromosomal disorder (disorder) Is a True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome abnormality screening Has focus True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Extra unidentified structurally abnormal chromosome Is a True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Unbalanced translocation of chromosome Is a True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Balanced rearrangement and structural marker (disorder) Is a True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Unbalanced translocation and insertion (disorder) Is a True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fetus with chromosomal abnormality Is a True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fetal chromosomal abnormality screening Has focus True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3
Sensorineural deafness and male infertility caused by a deletion of genetic material on the long (q) arm of chromosome 15. Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital chromosomal disease Is a True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Balanced translocation of chromosome Is a True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Due to False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary immunodeficiency syndrome due to p14 deficiency (disorder) Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked mendelian susceptibility to mycobacterial disease (disorder) Due to False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked immunoneurologic disorder Due to False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) Associated with False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) Due to False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency Due to False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder) Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3
Dementia due to chromosomal anomaly (disorder) Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Immunodeficiency due to mutation of FAS-associated protein with death domain gene (disorder) Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency Due to False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) Due to False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Neutrophil immunodeficiency syndrome Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
RAS-associated autoimmune leukoproliferative disease (disorder) Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) Associated with False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 5
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Associated with True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency Due to False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated with False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Due to False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial Due to False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Sporadic Blau syndrome Due to False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Idiopathic CD4 lymphocytopenia (disorder) Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Male infertility with teratozoospermia due to single gene mutation Due to False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 4
Constitutional mismatch repair deficiency syndrome (disorder) Due to False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder) Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 4
Male infertility with azoospermia due to single gene mutation Due to False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 4
Male infertility with oligozoospermia due to single gene mutation (disorder) Due to False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3
Immunodeficiency due to ficolin 3 deficiency (disorder) Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Combined immunodeficiency due to OX40 deficiency (disorder) Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Susceptibility to respiratory infection associated with CD8alpha chain mutation (disorder) Due to False Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Transient congenital hypothyroidism due to dual oxidase 2 mutation (disorder) Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Catecholaminergic polymorphic ventricular tachycardia due to calsequestrin mutation (disorder) Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3
Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder) Due to True Chromosomal disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3

This concept is not in any reference sets

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