Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
2985959014 |
Arthrocutaneouveal granulamotosis |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
2986000014 |
Familial juvenile systemic granulomatosis |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
2986046014 |
Familial granulomatosis, Blau type |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
2986076019 |
Pediatric granulomatous arthritis |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
2988823015 |
Familial granulomatous inflammatory arthritis, dermatitis and uveitis |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
2988834017 |
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
2988902010 |
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3856287012 |
Paediatric granulomatous arthritis |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
2985949013 |
Early onset sarcoidosis |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
2985959014 |
Arthrocutaneouveal granulamotosis |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
2985959014 |
Arthrocutaneouveal granulamotosis |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
2986000014 |
Familial juvenile systemic granulomatosis |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
2986000014 |
Familial juvenile systemic granulomatosis |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
2986046014 |
Familial granulomatosis, Blau type |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
2986076019 |
Pediatric granulomatous arthritis |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
2986076019 |
Pediatric granulomatous arthritis |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
2986110019 |
Blau syndrome |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
2986110019 |
Blau syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
2988823015 |
Familial granulomatous inflammatory arthritis, dermatitis and uveitis |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
2988823015 |
Familial granulomatous inflammatory arthritis, dermatitis and uveitis |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
2988834017 |
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) |
en |
Fully specified name |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
2988834017 |
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
2988902010 |
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
2988902010 |
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3856287012 |
Paediatric granulomatous arthritis |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
516611000274113 |
Familiäre Form der granulomatösen inflammatorischen Arthritis, Dermatitis und Uveitis |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
599971000274118 |
Granulomatöse Arthritis des Kindesalters, familiäre Form |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5439841000241117 |
arthrite inflammatoire granulomateuse familiale précoce, dermatite et uvéite |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5439841000241117 |
arthrite inflammatoire granulomateuse familiale précoce, dermatite et uvéite |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
516611000274113 |
Familiäre Form der granulomatösen inflammatorischen Arthritis, Dermatitis und Uveitis |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
599971000274118 |
Granulomatöse Arthritis des Kindesalters, familiäre Form |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Is a |
Autosomal dominant hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Is a |
Granulomatosis (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Associated morphology |
Granulomatosis |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Due to |
Chromosomal disorder (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Is a |
Immunodeficiency associated with chromosomal abnormality |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Has definitional manifestation |
Immune system finding |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Associated morphology |
Granulomatosis |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Occurrence |
Childhood |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Pathological process (attribute) |
Abnormal immune process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Is a |
Hereditary disorder of immune system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Is a |
Hereditary disorder of musculoskeletal system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Is a |
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. |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Pathological process (attribute) |
Abnormal immune process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Associated morphology |
Granulomatous inflammation |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Finding site |
Joint structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Is a |
Hereditary disorder of the visual system (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Is a |
Hereditary disorder of the integument (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Is a |
Uveitis (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Is a |
Inflammatory dermatosis (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Associated morphology |
Inflammatory morphology (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Pathological process (attribute) |
Abnormal immune process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Finding site |
Uveal tract structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Occurrence |
Childhood |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Associated morphology |
Inflammatory morphology (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Finding site |
Skin structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Occurrence |
Childhood |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Is a |
Dermatosis in childhood (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|