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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
482275013 Hereditary disorder of immune system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
85501000077116 troubles héréditaires du système immunitaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
85501000077116 troubles héréditaires du système immunitaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

212 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 (navigational concept) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of immune system Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of immune system Finding site Structure of immune system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of immune system Is a Disorder of immune function (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of immune system Finding site Body system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary disorder of immune system Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of immune system 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
Keratitis fugax hereditaria Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections. Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive common variable immunodeficiency due to CD81 deficiency (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to complete interleukin 6 cytokine family signal transducer deficiency (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
A rare hyper-IgE syndrome characterized by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteremia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition. Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Netherton syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive common variable immunodeficiency due to membrane spanning 4-domains A1 mutation (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive common variable immunodeficiency due to CD21 mutation Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined variable immunodeficiency due to B cell-activating factor receptor mutation (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant combined variable immunodeficiency due to tumor necrosis factor-like weak inducer of apoptosis mutation (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant combined variable immunodeficiency due to NFKB1 mutation Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Autosomal recessive combined variable immunodeficiency due to Rho guanine nucleotide exchange factor 1 mutation (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant combined variable immunodeficiency due to SEC61A1 mutation Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to diaphanous related formin 1 mutation (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Lung disease, immunodeficiency, chromosome breakage syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive common variable immunodeficiency due to Rac family small GTPase 2 deficiency (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)

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