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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
147651000077112 anomalie chromosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

712 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 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 trouble selon la localisation corporelle 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
syndrome de Meretoja Is a False Chromosomal disorder (disorder) Inferred relationship Some
Gelatinous droplike corneal dystrophy (disorder) Is a False Chromosomal disorder (disorder) Inferred relationship Some
dystrophie cornéenne cristalline de Schnyder 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

This concept is not in any reference sets

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