FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.7  |  FHIR Version n/a  User: [n/a]

363138005: Hereditary disorder of immune system (disorder)

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

Descriptions:

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

159 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 Existential restriction modifier
Hereditary disorder of immune system Is a Hereditary disorder by system true Inferred relationship Existential restriction modifier
Hereditary disorder of immune system Finding site Structure of immune system false Inferred relationship Existential restriction modifier
Hereditary disorder of immune system Is a Disorder of immune function true Inferred relationship Existential restriction modifier
Hereditary disorder of immune system Finding site Body system structure true Inferred relationship Existential restriction modifier 1
Hereditary disorder of immune system Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier
Hereditary disorder of immune system Pathological process Abnormal immune process true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Chédiak-Higashi syndrome Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Chronic granulomatous disease Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Hereditary lymphedema Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Acquired epidermolysis bullosa Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Wiskott-Aldrich syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Hypopigmentation-immunodeficiency disease Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Familial C3B inhibitor deficiency syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Hand-Schüller-Christian disease Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Adenosine deaminase deficiency Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Purine-nucleoside phosphorylase deficiency Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
X-linked agammaglobulinemia Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
X-linked lymphoproliferative syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Storage disease of the lung Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Hereditary angioedema Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Autosomal recessive severe combined immunodeficiency disease Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Complement component deficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Severe combined immunodeficiency disease Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Acatalasemia Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Chronic granulomatous disease Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Familial sea-blue histiocytosis Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Triglyceride storage disease with ichthyosis Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Hereditary white blood cell disorder Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
X-linked agammaglobulinemia with growth hormone deficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Ataxia-telangiectasia syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Hereditary angioedema with normal C1 esterase inhibitor activity Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Microcephaly, normal intelligence and immunodeficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Common variable immunodeficiency with autoantibodies to B- or T-cells Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Common variable immunodeficiency with predominant immunoregulatory T-cell disorders Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Vici syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Absent thumb with short stature and immunodeficiency syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Schimke immuno-osseous dysplasia Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Anhidrotic ectodermal dysplasia with immune deficiency Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Lichtenstein syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Isolated agammaglobulinemia Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Constitutional mismatch repair deficiency syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Combined immunodeficiency due to OX40 deficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Vasculitis due to adenosine deaminase 2 deficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Roifman syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Neonatal inflammatory skin and bowel disease Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Deficiency in anterior pituitary function, variable immunodeficiency syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Sterile multifocal osteomyelitis with periostitis and pustulosis Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Osteopetrosis hypogammaglobulinemia syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Severe dermatitis, multiple allergies, metabolic wasting syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Primary CD59 deficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
STING-associated vasculopathy with onset in infancy Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
X-linked intellectual disability with seizure and psoriasis syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Recurrent Neisseria infection due to factor D deficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Immunodeficiency with factor I anomaly Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Deficiency of interleukin 36 receptor antagonist Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Genetically determined myasthenia Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Hennekam lymphangiectasia-lymphedema syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Familial granulomatous inflammatory arthritis, dermatitis and uveitis Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Complement component 3 deficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Autoimmune lymphoproliferative syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Hereditary C1 esterase inhibitor deficiency - deficient factor Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Familial cold urticaria Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Polyglandular autoimmune syndrome, type 1 Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
X-linked immunoneurologic disorder Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Infantile inflammatory bowel disease with neurological involvement Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Familial chilblain lupus erythematosus Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Autoimmune interstitial lung disease, arthritis syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Familial amyloid nephropathy with urticaria AND deafness Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Autoinflammation, lipodystrophy and dermatosis syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier
Ubiquitin specific peptidase 18 deficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier

This concept is not in any reference sets

Back to Start