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234632005: Immunodeficiency associated with chromosomal abnormality (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
351567012 Immunodeficiency associated with chromosomal abnormality en Synonym Active Case insensitive SNOMED CT core
622978015 Immunodeficiency associated with chromosomal abnormality (disorder) en Fully specified name Active Case insensitive SNOMED CT core

25 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Immunodeficiency associated with chromosomal abnormality Pathological process Abnormal immune process true Inferred relationship Some 2
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 true Inferred relationship Some 1
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 false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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
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 hypogammaglobulinaemia 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 hypogammaglobulinaemia Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Immunodeficiency associated with 18p syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Primary immunodeficiency syndrome due to p14 deficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
X-linked mendelian susceptibility to mycobacterial disease Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
X-linked immunoneurologic disorder Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Autoimmune lymphoproliferative syndrome with recurrent viral infection Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
FADD-related immunodeficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to partial IRF8 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Neutrophil immunodeficiency syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
RAS-associated autoimmune leucoproliferative disease Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
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 Some
Anhidrotic ectodermal dysplasia with immune deficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Sporadic Blau syndrome Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Idiopathic CD4 lymphocytopenia Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Constitutional mismatch repair deficiency syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Immunodeficiency due to ficolin 3 deficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Susceptibility to respiratory infection associated with CD8alpha chain mutation Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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