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363138005: Hereditary disorder of immune system (disorder)

Status: current, 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
482275013 Hereditary disorder of immune system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754928016 Hereditary disorder of immune system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

218 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of immune system Is a Disorder of immune system false Inferred relationship Some
Hereditary disorder of immune system Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of immune system Finding site Structure of immune system (body structure) false Inferred relationship Some
Hereditary disorder of immune system Is a Disorder of immune function (disorder) true Inferred relationship Some
Hereditary disorder of immune system Finding site Body system structure true Inferred relationship Some 1
Hereditary disorder of immune system Has definitional manifestation Immune system finding false Inferred relationship Some
Hereditary disorder of immune system Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Keratitis fugax hereditaria Is a True Hereditary disorder of immune system Inferred relationship Some
Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency Is a True Hereditary disorder of immune system Inferred relationship Some
Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal recessive common variable immunodeficiency due to CD81 deficiency (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency Is a True Hereditary disorder of immune system Inferred relationship Some
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Netherton syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
X-linked common variable immunodeficiency due to SH3 domain containing kinase binding protein 1 deficiency (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias Is a False Hereditary disorder of immune system Inferred relationship Some
Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect Is a True Hereditary disorder of immune system Inferred relationship Some
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal recessive common variable immunodeficiency due to membrane spanning 4-domains A1 mutation (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal recessive common variable immunodeficiency due to CD21 mutation Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal recessive combined variable immunodeficiency due to B cell-activating factor receptor mutation (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal dominant combined variable immunodeficiency due to TWEAK mutation Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal dominant combined variable immunodeficiency due to nuclear factor kappa B subunit 1 mutation (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal dominant combined variable immunodeficiency due to interferon regulatory factor 2 binding protein 2 mutation (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal recessive combined variable immunodeficiency due to ARHGEF1 mutation Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal recessive common variable immunodeficiency due to POU class 2 homeobox associating factor 1 mutation (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Is a True Hereditary disorder of immune system Inferred relationship Some
Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to DIAPH1 mutation Is a True Hereditary disorder of immune system Inferred relationship Some
Lung disease, immunodeficiency, chromosome breakage syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Autosomal recessive common variable immunodeficiency due to RAC2 deficiency Is a True Hereditary disorder of immune system Inferred relationship Some
Interleukin 21 related infantile inflammatory bowel disease (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Recurrent herpes simplex virus 2 meningitis due to autosomal dominant autophagy related 4A cysteine peptidase deficiency (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Autoinflammation with arthritis and dyskeratosis due to NLRP1 deficiency Is a True Hereditary disorder of immune system Inferred relationship Some

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