363138005: Hereditary disorder of immune system (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

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

\trouble de la fonction immunitaire\Hereditary disorder of immune system

\affection d'un système corporel\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	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2
Hereditary disorder of immune system	est un(e) (attribut)	trouble de la fonction immunitaire	true	Inferred relationship	Some
Hereditary disorder of immune system	localisation d'une constatation (attribut)	structure d'un système corporel	true	Inferred relationship	Some	1
Hereditary disorder of immune system	est défini par la manifestation de (attribut)	Immune system finding	false	Inferred relationship	Some
Hereditary disorder of immune system	est un(e) (attribut)	Disorder of immune system (navigational concept)	false	Inferred relationship	Some
Hereditary disorder of immune system	est un(e) (attribut)	Hereditary disorder by system	true	Inferred relationship	Some
Hereditary disorder of immune system	localisation d'une constatation (attribut)	structure du système immunitaire	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Roifman syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Osteopetrosis hypogammaglobulinemia syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
PLCG2-associated antibody deficiency and immune dysregulation	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
syndrome de dermatite sévère-allergies multiples-cachexie métabolique	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Primary CD59 deficiency	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
STING-associated vasculopathy with onset in infancy (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
syndrome de déficience intellectuelle liée à l'X-épilepsie-psoriasis	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Recurrent Neisseria infection due to factor D deficiency	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Majeed syndrome	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Immunodeficiency with factor I anomaly (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Deficiency of interleukin 36 receptor antagonist	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Genetically determined myasthenia	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Hennekam syndrome	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Complement component 3 deficiency	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - deficient factor	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Familial cold urticaria	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
syndrome polyglandulaire auto-immun de type 1 (trouble)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
syndrome immuno-neurologique lié à l'X	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Infantile inflammatory bowel disease with neurological involvement (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Familial chilblain lupus erythematosus (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
néphropathie amyloïde familiale avec urticaire et surdité	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Nakajo-Nishimura syndrome	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Severe combined immunodeficiency disease	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Acatalasemia	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
Acquired epidermolysis bullosa	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
Chronic granulomatous disease (disorder)	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
syndrome de Wiskott-Aldrich (trouble)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
syndrome familial de déficit en inhibiteurs du C3B	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Hand-Schüller-Christian disease	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
Adenosine deaminase deficiency	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
Familial sea-blue histiocytosis (disorder)	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
Triglyceride storage disease with ichthyosis	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
X-linked agammaglobulinemia	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
Hereditary white blood cell disorder (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
X-linked agammaglobulinemia with growth hormone deficiency	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
X-linked lymphoproliferative syndrome	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Storage disease of the lung	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
Ataxia-telangiectasia syndrome	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Hereditary angioedema	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency disease (disorder)	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
Complement component deficiency	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Hereditary angioedema with normal C1 esterase inhibitor activity	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
Microcephaly, normal intelligence and immunodeficiency	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Common variable immunodeficiency with autoantibodies to B- or T-cells	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Common variable immunodeficiency with predominant immunoregulatory T-cell disorders	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Chédiak-Higashi syndrome	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
Chronic granulomatous disease	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
Vici syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
syndrome d'entéropathie et endocrinopathie auto-immunes-susceptibilité aux infections chroniques	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Schimke immuno-osseous dysplasia (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder)	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
lymphœdème héréditaire	est un(e) (attribut)	False	Hereditary disorder of immune system	Inferred relationship	Some
Lichtenstein syndrome	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Isolated agammaglobulinaemia	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Constitutional mismatch repair deficiency syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
syndrome d'anémie sidéroblastique congénitale, déficit immunitaire à cellules B-fièvre périodique, retard de développement	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Combined immunodeficiency due to OX40 deficiency	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Vasculitis due to adenosine deaminase 2 deficiency	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome	est un(e) (attribut)	True	Hereditary disorder of immune system	Inferred relationship	Some

This concept is not in any reference sets

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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
708311000077118	troubles héréditaires du système immunitaire (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)