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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 Reference Sets
482275013 Hereditary disorder of immune system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
754928016 Hereditary disorder of immune system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
2321821000005110 hereditær sygdom i immunsystemet da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

135 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
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
Hand-Schüller-Christian disease 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 SCID 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
familiær sea blue-histiocytose 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 True Hereditary disorder of immune system Inferred relationship Some
Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions Is a True Hereditary disorder of immune system Inferred relationship Some
Common variable immunodeficiency with predominant immunoregulatory T-cell disorders (disorder) Is a True 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 True 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 True 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
Metafyseal kondrodysplasi, McKusick-type, med associeret immundefekt 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

Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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