363138005: hereditaire aandoening van immuunsysteem (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system

\Disorder of immune function (disorder)\Hereditary disorder of immune system

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
Chédiak-Higashi syndrome	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Chronic granulomatous disease	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Hereditary lymphedema	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Acquired epidermolysis bullosa	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Wiskott-Aldrich syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Familial C3B inhibitor deficiency syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
ziekte van Hand-Schüller-Christian	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Adenosine deaminase deficiency	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
X-linked agammaglobulinemia	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
X-linked lymphoproliferative syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Storage disease of the lung	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Hereditary angioedema	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency disease (disorder)	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Complement component deficiency	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Severe combined immunodeficiency disease	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Acatalasemia	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Chronic granulomatous disease (disorder)	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
familiaire 'sea-blue'-histiocytose (aandoening)	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Triglyceride storage disease with ichthyosis	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Hereditary white blood cell disorder (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
X-linked agammaglobulinemia with growth hormone deficiency	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Ataxia-telangiectasia syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Hereditary angioedema with normal C1 esterase inhibitor activity	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Microcephaly, normal intelligence and immunodeficiency	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Common variable immunodeficiency with autoantibodies to B- or T-cells	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Common variable immunodeficiency with predominant immunoregulatory T-cell disorders (disorder)	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Vici syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Schimke immuno-osseous dysplasia (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder)	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Lichtenstein syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Isolated agammaglobulinaemia	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Constitutional mismatch repair deficiency syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Combined immunodeficiency due to OX40 deficiency	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Vasculitis due to adenosine deaminase 2 deficiency	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Roifman syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Osteopetrosis hypogammaglobulinemia syndrome (disorder)	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
PLCG2-associated antibody deficiency and immune dysregulation	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Severe dermatitis, multiple allergies, metabolic wasting syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Primary CD59 deficiency	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
STING-associated vasculopathy with onset in infancy (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Recurrent Neisseria infection due to factor D deficiency	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Majeed syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Immunodeficiency with factor I anomaly (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Deficiency of interleukin 36 receptor antagonist	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Genetically determined myasthenia	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
metafysaire chondrodysplasie type McKusick met geassocieerde immunodeficiëntie	Is a	False	Hereditary disorder of immune system	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Complement component 3 deficiency	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - deficient factor	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Familial cold urticaria	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
X-linked immunoneurologic disorder (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Infantile inflammatory bowel disease with neurological involvement (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Familial chilblain lupus erythematosus (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Familial amyloid nephropathy with urticaria AND deafness	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Nakajo-Nishimura syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
USP18 deficiency	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Hyperimmunoglobulinemia D with periodic fever (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Common variable agammaglobulinemia	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Hereditary paediatric Behçet-like disease	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Aicardi Goutieres syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Autosomal systemic lupus erythematosus (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Spondyloenchondrodysplasia	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Singleton-Merten syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Trichohepatoenteric syndrome	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder)	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some
Keratitis fugax hereditaria	Is a	True	Hereditary disorder of immune system	Inferred relationship	Some

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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
6478041000146119	hereditaire aandoening van immuunsysteem	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6478051000146116	hereditaire aandoening van immuunsysteem (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6478061000146118	erfelijke ziekte van afweersysteem	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)