FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
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
482275013 Hereditary disorder of immune system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
85501000077116 troubles héréditaires du système immunitaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
85501000077116 troubles héréditaires du système immunitaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

212 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 (navigational concept) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of immune system Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of immune system Finding site Structure of immune system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of immune system Is a Disorder of immune function (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of immune system Finding site Body system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary disorder of immune system Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of immune system Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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 (core metadata concept)
Chronic granulomatous disease Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary lymphedema Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Acquired epidermolysis bullosa Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Wiskott-Aldrich syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Hypopigmentation-immunodeficiency disease Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Familial C3B inhibitor deficiency syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
maladie de Hand-Schüller-Christian Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Adenosine deaminase deficiency Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Purine-nucleoside phosphorylase deficiency Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked agammaglobulinaemia Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lymphoproliferative syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Storage disease of the lung Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary angio-oedema Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive SCID (severe combined immunodeficiency disease) Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Complement component deficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency disease Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Acatalasemia Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Chronic granulomatous disease (disorder) Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Familial sea-blue histiocytosis Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Triglyceride storage disease with ichthyosis Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary white blood cell disorder (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked agammaglobulinemia with growth hormone deficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary angioneurotic oedema with normal C1 esterase inhibitor activity Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, normal intelligence and immunodeficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Common variable immunodeficiency with autoantibodies to B- or T-cells (disorder) Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Common variable immunodeficiency with predominant immunoregulatory T-cell disorders (disorder) Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Schimke immuno-osseous dysplasia Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Lichtenstein syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Isolated agammaglobulinemia Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Constitutional mismatch repair deficiency syndrome (disorder) Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to OX40 deficiency (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Roifman syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal inflammatory skin and bowel disease Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Osteopetrosis hypogammaglobulinemia syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
PLCG2-associated antibody deficiency and immune dysregulation Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects. Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Primary CD59 deficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
STING-associated vasculopathy with onset in infancy Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with seizure and psoriasis syndrome (disorder) Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Recurrent Neisseria infection due to factor D deficiency (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Immunodeficiency with factor I anomaly (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic autoinflammatory syndrome with immune deficiency disease characterised by recurrent and severe flares of generalised pustular psoriasis associated with high fever, asthenia and systemic inflammation due to IL36R antagonist deficiency. Psoriatic nail changes (for example pitting and onychomadesis) and ichthyosis may occasionally be associated. Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Genetically determined myasthenia (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Hennekam lymphangiectasia-lymphoedema syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Is a False Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Complement component 3 deficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autoimmune lymphoproliferative syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary C1 esterase inhibitor deficiency - deficient factor Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Familial cold urticaria Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Polyglandular autoimmune syndrome, type 1 Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked immunoneurologic disorder Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhoea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leucoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Familial chilblain lupus erythematosus Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Familial amyloid nephropathy with urticaria AND deafness Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autoinflammation, lipodystrophy and dermatosis syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
A rare autoinflammatory syndrome with characteristics of episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold. There is evidence the disease is caused by heterozygous mutation in the NLRP12 gene on chromosome 19q13. Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Ubiquitin specific peptidase 18 deficiency (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Hyperimmunoglobulinemia D with periodic fever (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Common variable agammaglobulinaemia Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary paediatric Behçet-like disease Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal systemic lupus erythematosus (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloenchondrodysplasia Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Singleton-Merten syndrome Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Trichohepatoenteric syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)
Keratitis fugax hereditaria Is a True Hereditary disorder of immune system Inferred relationship Existential restriction modifier (core metadata concept)

Page 1 of 2 End

This concept is not in any reference sets

Back to Start