SNOMED CT

Last uploaded: August 28, 2024
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.

ID

http://purl.bioontology.org/ontology/SNOMEDCT/818950005

Active

1

altLabel

Blau syndrome (disorder)

CASE SIGNIFICANCE ID

900000000000017005

CTV3ID

XVBlu

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.

DEFINITION STATUS ID

900000000000074008

Effective time

20200131

Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/6266001

Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/39352004

Has pathological process

http://purl.bioontology.org/ontology/SNOMEDCT/769247005

notation

818950005

Occurs in

http://purl.bioontology.org/ontology/SNOMEDCT/255398004

prefLabel

Blau syndrome

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

tui

T047

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/128561003

http://purl.bioontology.org/ontology/SNOMEDCT/3723001

http://purl.bioontology.org/ontology/SNOMEDCT/58606001

http://purl.bioontology.org/ontology/SNOMEDCT/782964007

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/M04.8 ICD10CM CUI
http://purl.bioontology.org/ontology/OMIM/186580 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10071755 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/605956 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10071755 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/818950005 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10071755 MEDDRA CUI
rgo:25821 GAMUTS LOOM
http://identifiers.org/omim/186580 REXO LOOM
http://identifiers.org/omim/186580 GEXO LOOM
http://identifiers.org/omim/186580 RETO LOOM
http://purl.obolibrary.org/obo/DERMO_0000683 DERMO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12018 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008523 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008523 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008523 DOVES LOOM
https://github.com/sap218/ocimido/blob/master/ontology/ocimido.owl#OCIMIDO_00062 OCIMIDO LOOM
http://purl.obolibrary.org/obo/NCIT_C116794 BERO LOOM
http://purl.obolibrary.org/obo/DOID_0050678 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050678 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050678 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050678 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050678 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050678 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050678 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/186580 OMIM LOOM
http://purl.bioontology.org/ontology/MESH/C538157 MESH LOOM
urn:agi-pathway:uuid-c741164a-5c16-4f88-9873-2a11395376c1 BPT LOOM
http://purl.jp/bio/4/id/200906086521095782 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116794 NCIT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10071755 MEDDRA LOOM
http://www.orpha.net/ORDO/Orphanet_90340 ORDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200476 NANDO LOOM
http://purl.obolibrary.org/obo/OMIM_186580 CCO LOOM