OMOP Concept 37471040
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis due to HOIP deficiency
StandardConditionSNOMED1365687001Disorder
Maps from
0
Descendants
0
Valid from
1 May 2025
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis due to HOIP deficiency across source vocabularies.
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis due to HOIL-1 deficiency
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis due to HOIP deficiency (disorder)
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis due to RNF31 mutation
- síndrome autoinflamatorio con infección bacteriana piógena y amilopectinosis debido a deficiencia de HOIL-1
- síndrome autoinflamatorio con infección bacteriana piógena y amilopectinosis debido a deficiencia de HOIP
- síndrome autoinflamatorio con infección bacteriana piógena y amilopectinosis debido a deficiencia de HOIP (trastorno)
- síndrome autoinflamatorio con infección bacteriana piógena y amilopectinosis debido a mutación de RNF31
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(33)Roll up to these when you need a wider cohort.
- 1Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
- 2Autoimmune disease
- 2Autoinflammatory disease
- 2Autosomal recessive hereditary disorder
- 2Chronic disease of immune function
- 2Chronic disease of immune structure
- 2Chronic disease of musculoskeletal system
- 2Combined immunodeficiency disease
- 2Disorder of skeletal muscle
- 2Hereditary disorder of immune system
- 2Hereditary disorder of musculoskeletal system
- 3Autosomal hereditary disorder
- 3Chronic disease
- 3Disorder of immune function
- 3Disorder of immune structure
- 3Disorder of muscle
- 3Disorder of musculoskeletal system
- 3Disorder of soft tissue
- 3Hereditary disorder by system
- 3Inflammatory disorder of immune system
- 3Primary immune deficiency disorder
- 4Disease
- 4Disorder of body system
- 4General finding of soft tissue
- 4Hereditary disease
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