409709004: Chromosomal disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Chromosomal disorder (disorder)

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
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 (procedure)	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	Is a	True	Chromosomal disorder (disorder)	Inferred relationship	Some
Unbalanced translocation and insertion	Is a	True	Chromosomal disorder (disorder)	Inferred relationship	Some
Fetal chromosomal abnormality (disorder)	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 caused by a deletion of genetic material on the long (q) arm of chromosome 15.	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 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	Some	1
Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterised by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	1
X-linked (XR) Mendelian susceptibility to mycobacterial diseases describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occurring in males.	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.	Associated with	False	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Mendelian susceptibly to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, 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	Some	1
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.	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 is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG).	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	1
RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.	Associated with	False	Chromosomal disorder (disorder)	Inferred relationship	Some	5
A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer.	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.	Associated with	True	Chromosomal disorder (disorder)	Inferred relationship	Some	3
A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR2, leading to impaired 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	Some	1
Anhidrotic ectodermal dysplasia with immune deficiency (disorder)	Associated with	False	Chromosomal disorder (disorder)	Inferred relationship	Some	4
A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR1, 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	Some	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	Some	1
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	1
A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. There are familial and sporadic forms of the same disease. The disease is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death.	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	4
Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development.	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	2
A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness.	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	4
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	4
A rare genetic male infertility due to oligozoospermia (number of sperm in the ejaculate inferior to 15 million/mL) resulting from a mutation in a single gene known to cause oligozoospermia. Sperm morphology may be normal.	Due to	False	Chromosomal disorder (disorder)	Inferred relationship	Some	3
Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
Combined immunodeficiency due to OX40 deficiency is a rare, combined T and B cell immunodeficiency characterised by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.	Due to	True	Chromosomal disorder (disorder)	Inferred relationship	Some	2
A rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titers in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.	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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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
914491000195117	disturbo cromosomico	it	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
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