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409709004: Chromosomal disorder (disorder)

Status: current, Defined. 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 Case insensitive SNOMED CT core
2471471017 Chromosomal disorder en Synonym Active Case insensitive SNOMED CT core
3289702019 Chromosomal anomaly en Synonym Active Case insensitive SNOMED CT core

715 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 Some
Chromosomal disorder Finding site Chromosome structure false Inferred relationship Some
Chromosomal disorder Is a Disease true Inferred relationship Some
Chromosomal disorder Is a Disorder by body site false Inferred relationship Some
Chromosomal disorder Finding site Chromosome structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Transient congenital hypothyroidism due to dual oxidase 2 mutation Due to True Chromosomal disorder Inferred relationship Some 2
Catecholaminergic polymorphic ventricular tachycardia due to calsequestrin mutation Due to True Chromosomal disorder Inferred relationship Some 3
Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation Due to True Chromosomal disorder Inferred relationship Some 3
Congenital chromosomal disease Is a False Chromosomal disorder Inferred relationship Some
Immunodeficiency associated with chromosomal abnormality Associated with True Chromosomal disorder Inferred relationship Some 1
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Associated with True Chromosomal disorder Inferred relationship Some 2
Chromosome 18 syndromes and antibody deficiency Associated with True Chromosomal disorder Inferred relationship Some 2
Chromosome 22 abnormalities with hypogammaglobulinaemia Associated with True Chromosomal disorder Inferred relationship Some 2
Monosomy 22 and absence of IgA Associated with True Chromosomal disorder Inferred relationship Some 2
Deletion of X-chromosome and hypogammaglobulinaemia Associated with True Chromosomal disorder Inferred relationship Some 2
Microcephaly, normal intelligence and immunodeficiency Associated with True Chromosomal disorder Inferred relationship Some 3
Triple X syndrome, epilepsy, and hypogammaglobulinaemia Associated with True Chromosomal disorder Inferred relationship Some 2
Immunodeficiency associated with 18p syndrome Associated with True Chromosomal disorder Inferred relationship Some 1
Bloom syndrome Associated with True Chromosomal disorder Inferred relationship Some 3
Ataxia-telangiectasia syndrome Associated with True Chromosomal disorder Inferred relationship Some 3
Male infertility of chromosomal origin Due to True Chromosomal disorder Inferred relationship Some 2
Macular corneal dystrophy Is a False Chromosomal disorder Inferred relationship Some
Meretoja syndrome Is a False Chromosomal disorder Inferred relationship Some
Gelatinous droplike corneal dystrophy Is a False Chromosomal disorder Inferred relationship Some
Schnyder crystalline corneal dystrophy Is a False Chromosomal disorder Inferred relationship Some
Amniocentesis for possible chromosomal abnormality Has focus True Chromosomal disorder Inferred relationship Some 4
Absence of sex chromosome Is a True Chromosomal disorder Inferred relationship Some
Duplication of chromosome Is a True Chromosomal disorder Inferred relationship Some
Autosomal chromosomal disorder Is a True Chromosomal disorder Inferred relationship Some
Chromosome abnormality screening Has focus True Chromosomal disorder Inferred relationship Some 2
Extra unidentified structurally abnormal chromosome Is a True Chromosomal disorder Inferred relationship Some
Unbalanced translocation of chromosome Is a True Chromosomal disorder Inferred relationship Some
Balanced rearrangement and structural marker Is a True Chromosomal disorder Inferred relationship Some
Unbalanced translocation and insertion Is a True Chromosomal disorder Inferred relationship Some
Fetus with chromosomal abnormality Is a True Chromosomal disorder Inferred relationship Some
Fetal chromosomal abnormality screening Has focus True Chromosomal disorder Inferred relationship Some 3
Sensorineural deafness and male infertility Due to True Chromosomal disorder Inferred relationship Some 4
Congenital chromosomal disease Is a True Chromosomal disorder Inferred relationship Some
Balanced translocation of chromosome Is a True Chromosomal disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency Due to False Chromosomal disorder Inferred relationship Some 1
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 Due to True Chromosomal disorder Inferred relationship Some 2
Primary immunodeficiency syndrome due to p14 deficiency Due to True Chromosomal disorder Inferred relationship Some 1
X-linked mendelian susceptibility to mycobacterial disease Due to False Chromosomal disorder Inferred relationship Some 1
X-linked immunoneurologic disorder Due to False Chromosomal disorder Inferred relationship Some 1
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency Associated with False Chromosomal disorder Inferred relationship Some 2
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency Due to False Chromosomal disorder Inferred relationship Some 1
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency Due to False Chromosomal disorder Inferred relationship Some 1
Autoimmune lymphoproliferative syndrome with recurrent viral infection Due to True Chromosomal disorder Inferred relationship Some 2
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome Due to True Chromosomal disorder Inferred relationship Some 3
Dementia due to chromosomal anomaly Due to True Chromosomal disorder Inferred relationship Some 2
FADD-related immunodeficiency Due to True Chromosomal disorder Inferred relationship Some 1
Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency Due to False Chromosomal disorder Inferred relationship Some 1
Mendelian susceptibility to mycobacterial disease due to partial IRF8 deficiency Due to False Chromosomal disorder Inferred relationship Some 1
Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency Due to False Chromosomal disorder Inferred relationship Some 1
Neutrophil immunodeficiency syndrome Due to True Chromosomal disorder Inferred relationship Some 1
RAS-associated autoimmune leucoproliferative disease Due to True Chromosomal disorder Inferred relationship Some 2
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome Associated with False Chromosomal disorder Inferred relationship Some 5
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency Due to True Chromosomal disorder Inferred relationship Some 2
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Associated with True Chromosomal disorder Inferred relationship Some 3
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency Due to False Chromosomal disorder Inferred relationship Some 1
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency Due to False Chromosomal disorder Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency Associated with True Chromosomal disorder Inferred relationship Some 4
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency Due to False Chromosomal disorder Inferred relationship Some 1
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency Due to False Chromosomal disorder Inferred relationship Some 1
Familial granulomatous inflammatory arthritis, dermatitis and uveitis Due to False Chromosomal disorder Inferred relationship Some 1
Sporadic Blau syndrome Due to False Chromosomal disorder Inferred relationship Some 2
Idiopathic CD4 lymphocytopenia Due to True Chromosomal disorder Inferred relationship Some 2
Male infertility with teratozoospermia due to single gene mutation Due to False Chromosomal disorder Inferred relationship Some 4
Constitutional mismatch repair deficiency syndrome Due to True Chromosomal disorder Inferred relationship Some 2
Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Due to True Chromosomal disorder Inferred relationship Some 4
Male infertility with azoospermia due to single gene mutation Due to False Chromosomal disorder Inferred relationship Some 4
Male infertility with oligozoospermia due to single gene mutation Due to False Chromosomal disorder Inferred relationship Some 3
Immunodeficiency due to ficolin 3 deficiency Due to True Chromosomal disorder Inferred relationship Some 2
Combined immunodeficiency due to OX40 deficiency Due to True Chromosomal disorder Inferred relationship Some 2
Susceptibility to respiratory infection associated with CD8alpha chain mutation Due to False Chromosomal disorder Inferred relationship Some 1

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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