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409709004: Chromosomal disorder (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
2465160018 Chromosomal disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
2471471017 Chromosomal disorder en Synonym Active Entire term case insensitive SNOMED CT core module
3289702019 Chromosomal anomaly en Synonym Active Entire term case insensitive SNOMED CT core module

714 descendants. Search Descendants:

Expanded Value Set

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

This concept is not in any reference sets

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