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363138005: Hereditary disorder of immune system (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482275013 Hereditary disorder of immune system en Synonym Active Case insensitive SNOMED CT core
754928016 Hereditary disorder of immune system (disorder) en Fully specified name Active Case insensitive SNOMED CT core

167 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of immune system Pathological process Abnormal immune process true Inferred relationship Some 2
Hereditary disorder of immune system Is a Disorder of immune function 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 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 false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Roifman syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Neonatal inflammatory skin and bowel disease Is a True Hereditary disorder of immune system Inferred relationship Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis Is a True Hereditary disorder of immune system Inferred relationship Some
Osteopetrosis hypogammaglobulinaemia syndrome 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 Is a True Hereditary disorder of immune system Inferred relationship Some
X-linked intellectual disability with seizure and psoriasis syndrome 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 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 syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency 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 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 angioedema - type 1 Is a True Hereditary disorder of immune system Inferred relationship Some
Hereditary angioedema - type 2 Is a True Hereditary disorder of immune system Inferred relationship Some
Familial cold urticaria Is a False 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 Is a True Hereditary disorder of immune system Inferred relationship Some
Infantile inflammatory bowel disease with neurological involvement Is a True Hereditary disorder of immune system Inferred relationship Some
Warts, immunodeficiency, lymphoedema, anogenital dysplasia syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Familial chilblain lupus erythematosus Is a True Hereditary disorder of immune system Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Familial amyloid nephropathy with urticaria AND deafness Is a False Hereditary disorder of immune system Inferred relationship Some
Nakajo-Nishimura syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
NLRP12-associated hereditary periodic fever syndrome Is a False Hereditary disorder of immune system Inferred relationship Some
CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome Is a False Hereditary disorder of immune system Inferred relationship Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome Is a False 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
Mevalonic aciduria Is a True Hereditary disorder of immune system Inferred relationship Some
Monogenic autoinflammatory syndrome 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
Acatalasaemia 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
Chronic granulomatous disease 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
Familial sea-blue histiocytosis 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
Triglyceride storage disease with ichthyosis Is a False Hereditary disorder of immune system Inferred relationship Some
X-linked agammaglobulinaemia Is a False Hereditary disorder of immune system Inferred relationship Some
Hereditary white blood cell disorder Is a True Hereditary disorder of immune system Inferred relationship Some
X-linked agammaglobulinaemia with growth hormone deficiency Is a True 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
Ataxia-telangiectasia syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Hereditary angioedema Is a False Hereditary disorder of immune system Inferred relationship Some
Autosomal recessive SCID (severe combined immunodeficiency disease) 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
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 Is a True Hereditary disorder of immune system Inferred relationship Some
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
Vici syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Say Barber Miller syndrome Is a False Hereditary disorder of immune system Inferred relationship Some
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Schimke immuno-osseous dysplasia Is a True Hereditary disorder of immune system Inferred relationship Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency Is a True Hereditary disorder of immune system Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency Is a False Hereditary disorder of immune system Inferred relationship Some
Hereditary lymphoedema 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 Is a True Hereditary disorder of immune system Inferred relationship Some
Congenital sideroblastic anaemia, 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 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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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