FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
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

216 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
A rare ophthalmic disorder characterized by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks. Caused by a heterozygous pathogenic variant c.61G>C, p.(Asp21His) in the NLRP3 gene. The pathogenic variant is highly penetrant (95%). The disease is autosomal dominant. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare syndrome with combined immunodeficiency characterised by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leucoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects. Is a True Hereditary disorder of immune system Inferred relationship Some
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 Some
A rare genetic autoinflammatory syndrome with skin involvement characterised by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor 12 (F-12) gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years. 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
A rare hyper-IgE syndrome characterised by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteraemia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhoea, 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 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
A rare non-severe combined immunodeficiency characterised by tumour necrosis factor-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described. 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
A rare autosomal recessive primary immunodeficiency characterised by infancy onset of severe inflammatory bowel disease with life-threatening diarrhoea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal. 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

Start Page 2 of 2

This concept is not in any reference sets

Back to Start