OMOP Concept 1449175
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
StandardConditionSNOMED1351328007Disorder
Maps from
0
Descendants
0
Valid from
1 Nov 2024
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency across source vocabularies.
- Autosomal recessive combined immunodeficiency due to complete glycoprotein 130 deficiency
- Autosomal recessive combined immunodeficiency due to complete IL6 signal transducer protein deficiency
- Autosomal recessive combined immunodeficiency due to complete interleukin 6 cytokine family signal transducer deficiency
- Autosomal recessive combined immunodeficiency due to complete interleukin 6 cytokine family signal transducer deficiency (disorder)
- Autosomal recessive combined immunodeficiency due to GP130 deficiency
- Autosomal recessive hyperimmunoglobulin E syndrome due to complete IL6ST deficiency
- inmunodeficiencia combinada autosómica recesiva debida a deficiencia de GP130
- inmunodeficiencia combinada autosómica recesiva debida a deficiencia de transductor de señal de la familia de citocinas interleucina 6 completa
- inmunodeficiencia combinada autosómica recesiva debida a deficiencia de transductor de señal de la familia de citocinas interleucina 6 completa (trastorno)
- inmunodeficiencia combinada autosómica recesiva debida deficiencia de IL6ST completa
- Stüve Wiedemann syndrome type 2
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(43)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Bent bone dysplasia group
- 1Congenital immunodeficiency disease
- 1Developmental hereditary disorder
- 1Hereditary disorder of immune system
- 1Hereditary disorder of musculoskeletal system
- 1Hyperimmunoglobulin E syndrome
- 2Autosomal hereditary disorder
- 2Combined immunodeficiency disease
- 2Congenital anomaly of skeletal bone
- 2Congenital disease
- 2Developmental disorder
- 2Disorder of immune function
- 2Disorder of musculoskeletal system
- 2Genetic disease
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Immunodeficiency disorder
- 2Immunoglobulin above reference range
- 2Lesion of bone
- 2Skeletal dysplasia
- 3Congenital anomaly of musculoskeletal system
- 3Disease
- 3Disorder of body system
- 3Disorder of bone
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