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234632005: Immunodeficiency associated with chromosomal abnormality (disorder)

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

Descriptions:

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
351567012 Immunodeficiency associated with chromosomal abnormality en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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

23 descendants. Search Descendants:

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 Existential restriction modifier (core metadata concept)
Immunodeficiency associated with chromosomal abnormality Finding site Structure of immune system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Immunodeficiency associated with chromosomal abnormality Is a Primary immune deficiency disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Immunodeficiency associated with chromosomal abnormality Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Immunodeficiency associated with chromosomal abnormality Associated with Chromosomal disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Immunodeficiency associated with chromosomal abnormality Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)
Chromosome 18 syndromes and antibody deficiency (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome 22 abnormalities with hypogammaglobulinaemia Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of X-chromosome and hypogammaglobulinaemia Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, normal intelligence and immunodeficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Triple X syndrome, epilepsy, and hypogammaglobulinemia Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
18-p syndrome with associated immunodeficiency (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Bloom syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Primary immunodeficiency syndrome due to p14 deficiency (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
X-linked mendelian susceptibility to mycobacterial disease (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
X-linked immunoneurologic disorder Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Immunodeficiency due to mutation of FAS-associated protein with death domain gene (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Neutrophil immunodeficiency syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
RAS-associated autoimmune leukoproliferative disease (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Sporadic Blau syndrome Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Idiopathic CD4 lymphocytopenia (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Constitutional mismatch repair deficiency syndrome (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Immunodeficiency due to ficolin 3 deficiency (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to OX40 deficiency (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)
Susceptibility to respiratory infection associated with CD8alpha chain mutation (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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