234632005: Immunodeficiency associated with chromosomal abnormality (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Immunodeficiency associated with chromosomal abnormality	Is a	Immunodeficiency with major anomalies	false	Inferred relationship	Some
Immunodeficiency associated with chromosomal abnormality	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Immunodeficiency associated with chromosomal abnormality	Is a	Primary immune deficiency disorder	true	Inferred relationship	Some
Immunodeficiency associated with chromosomal abnormality	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Immunodeficiency associated with chromosomal abnormality	Associated with	Chromosomal disorder (disorder)	true	Inferred relationship	Some	1
Immunodeficiency associated with chromosomal abnormality	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Chromosome 18 syndromes and antibody deficiency	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Chromosome 22 abnormalities with hypogammaglobulinaemia	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Deletion of X-chromosome and hypogammaglobulinemia	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Microcephaly, normal intelligence and immunodeficiency	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Triple X syndrome, epilepsy, and hypogammaglobulinemia	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
18-p syndrome with associated immunodeficiency (disorder)	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Bloom syndrome	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Ataxia-telangiectasia syndrome	Is a	True	Immunodeficiency associated with chromosomal abnormality	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).	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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.	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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.	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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.	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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).	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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.	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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.	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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.	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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).	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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.	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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.	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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.	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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).	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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).	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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).	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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).	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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.	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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.	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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.	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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.	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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.	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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.	Is a	True	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some
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.	Is a	False	Immunodeficiency associated with chromosomal abnormality	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
351567012	Immunodeficiency associated with chromosomal abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
622978015	Immunodeficiency associated with chromosomal abnormality (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4997501000241114	immunodéficience liée à une anomalie chromosomique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2417301000195112	Immundefizienz in Verbindung mit einer Chromosomenanomalie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2417311000195114	Immunschwäche in Verbindung mit einer Chromosomenanomalie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module