Preferred Name | Blau syndrome | |
Synonyms |
Blau syndrome (disorder) |
|
Definitions |
A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form. |
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ID |
http://purl.bioontology.org/ontology/SNOMEDCT/818950005 |
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Active |
1 |
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altLabel |
Blau syndrome (disorder) |
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CASE SIGNIFICANCE ID |
900000000000017005 |
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CTV3ID |
XVBlu |
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cui |
C5201146 |
|
definition |
A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form. |
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DEFINITION STATUS ID |
900000000000074008 |
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Effective time |
20200131 |
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Has associated morphology | ||
Has finding site | ||
Has pathological process | ||
notation |
818950005 |
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Occurs in | ||
prefLabel |
Blau syndrome |
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Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 447562003~MAPADVICE~ALWAYS D89.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPTARGET~D89.8 447562003~MAPCATEGORYID~447637006 6011000124106~MAPTARGET~M04.8 900000000000497000~MAPTARGET~XVBlu 6011000124106~MAPADVICE~ALWAYS M04.8 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE |
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tui |
T047 |
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Type ID |
900000000000003001 900000000000013009 |
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subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/128561003 http://purl.bioontology.org/ontology/SNOMEDCT/3723001 |