Hereditary disorder of immune system   363138005

SNOMED CT code


SNOMED code363138005
nameHereditary disorder of immune system
statusactive
date introduced2002-01-31
fully specified name(s)Hereditary disorder of immune system (disorder)
synonymsHereditary disorder of immune system
attributes - group2
Pathological processAbnormal immune process   769247005
attributes - group1
Finding siteBody system structure   91689009
parents
children
  • Absent thumb with short stature and immunodeficiency syndrome   719685004
  • Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome   722281001
  • Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome   720980004
  • Ataxia-telangiectasia syndrome   68504005
  • Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome   722288007
  • Autoimmune interstitial lung disease, arthritis syndrome   1222679006
  • Autoimmune lymphoproliferative syndrome   702444009
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation   778004006
  • Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis   829973009
  • CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome   1186720006
  • Chronic granulomatous disease   11210002  removed: 2003-01-31
  • Combined immunodeficiency due to OX40 deficiency   766879006
  • Combined immunodeficiency with faciooculoskeletal anomalies syndrome   770625006
  • Common variable agammaglobulinemia   23238000
  • Complement component 3 deficiency   771443008
  • Complement component deficiency   363009005
  • Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome   1279887007
  • Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome   765327005
  • Constitutional mismatch repair deficiency syndrome   764946008
  • Deficiency in anterior pituitary function, variable immunodeficiency syndrome   773664005
  • Deficiency of interleukin 36 receptor antagonist   784339002
  • Facial dysmorphism, immunodeficiency, livedo, short stature syndrome   771515001
  • Familial amyloid nephropathy with urticaria AND deafness   15123008
  • Familial C3B inhibitor deficiency syndrome   39674000
  • Familial chilblain lupus erythematosus   1220590003
  • Familial cold urticaria   238687000
  • Genetically determined myasthenia   230669004
  • Granulomatous inflammatory arthritis, dermatitis and uveitis, familial   699861000
  • Hennekam syndrome   234146006
  • Hereditary C1 esterase inhibitor deficiency - deficient factor   234619000
  • Hereditary C1 esterase inhibitor deficiency - dysfunctional factor   234620006
  • Hereditary white blood cell disorder   414395005
  • Hyperimmunoglobulinemia D with periodic fever   403834003
  • Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome   771333006
  • Immunodeficiency with factor I anomaly   783621008
  • Infantile inflammatory bowel disease with neurological involvement   1186721005
  • Isolated agammaglobulinemia   764858009
  • Lichtenstein syndrome   763668009
  • Majeed syndrome   703540008
  • Microcephaly, normal intelligence and immunodeficiency   234638009
  • Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome   733028000
  • Nakajo-Nishimura syndrome   702449004
  • Neonatal inflammatory skin and bowel disease   773662009
  • NLRC4-related familial cold autoinflammatory syndrome   1264006004
  • NLRP12-associated hereditary periodic fever syndrome   783146009
  • Osteopetrosis hypogammaglobulinemia syndrome   773730002
  • OTULIN-related autoinflammatory syndrome   765435009
  • Polyglandular autoimmune syndrome, type 1   11244009
  • Primary CD59 deficiency   778027003
  • Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency   724275005
  • Pyogenic arthritis, pyoderma gangrenosum, acne syndrome   724015007
  • Recurrent Neisseria infection due to factor D deficiency   783007005
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations   783787000
  • Roifman syndrome   773404000
  • Schimke immuno-osseous dysplasia   723995003
  • Severe combined immunodeficiency disease   31323000
  • Severe dermatitis, multiple allergies, metabolic wasting syndrome   774211005
  • Sterile multifocal osteomyelitis with periostitis and pustulosis   773702002
  • STING-associated vasculopathy with onset in infancy   711164003
  • USP18 deficiency   1251449006
  • Vasculitis due to adenosine deaminase 2 deficiency   770687001
  • Vici syndrome   719824001
  • Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome   1186725001
  • Wiskott-Aldrich syndrome   36070007
  • X-linked agammaglobulinemia with growth hormone deficiency   234533006
  • X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome   724276006
  • X-linked immunoneurologic disorder   719827008
  • X-linked intellectual disability with seizure and psoriasis syndrome   719810000
  • X-linked lymphoproliferative syndrome   77121009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Hereditary disorder of immune system   363138005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of immune function   414029004
        Hereditary disorder of immune system   363138005

ancestors
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