Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
4697302013 |
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4697303015 |
Periodic fever, infantile enterocolitis, autoinflammatory syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4697304014 |
NLRC4-related infantile enterocolitis, autoinflammatory syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
4697305010 |
NLRC4-related macrophage activation syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
4697306011 |
NLRC4-related autoinflammatory syndrome with macrophage activation syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
4697307019 |
A rare genetic systemic or rheumatologic disease with characteristics of neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure and death. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
est un(e) (attribut) |
Autosomal dominant hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
est un(e) (attribut) |
affection chronique de l'appareil digestif |
true |
Inferred relationship |
Some |
|
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
est un(e) (attribut) |
Digestive system hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
est un(e) (attribut) |
Hereditary periodic fever (disorder) |
true |
Inferred relationship |
Some |
|
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
est un(e) (attribut) |
maladie chronique de la fonction immunitaire |
false |
Inferred relationship |
Some |
|
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
est un(e) (attribut) |
maladie chronique d'une structure immunitaire |
false |
Inferred relationship |
Some |
|
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
est un(e) (attribut) |
Hereditary white blood cell disorder (disorder) |
true |
Inferred relationship |
Some |
|
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
est un(e) (attribut) |
Macrophage activation syndrome (disorder) |
true |
Inferred relationship |
Some |
|
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
est un(e) (attribut) |
Inflammation of small intestine and colon (disorder) |
true |
Inferred relationship |
Some |
|
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
évolution clinique (attribut) |
récurrent |
true |
Inferred relationship |
Some |
4 |
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
associé à (attribut) |
Fever |
true |
Inferred relationship |
Some |
5 |
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
survenue (attribut) |
Infancy (qualifier value) |
true |
Inferred relationship |
Some |
2 |
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
localisation d'une constatation (attribut) |
Structure of small intestine (body structure) |
true |
Inferred relationship |
Some |
2 |
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
morphologie associée (attribut) |
Inflammatory morphology (morphologic abnormality) |
true |
Inferred relationship |
Some |
2 |
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
survenue (attribut) |
Infancy (qualifier value) |
true |
Inferred relationship |
Some |
3 |
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
localisation d'une constatation (attribut) |
Colon structure |
true |
Inferred relationship |
Some |
3 |
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
morphologie associée (attribut) |
Inflammatory morphology (morphologic abnormality) |
true |
Inferred relationship |
Some |
3 |
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
localisation d'une constatation (attribut) |
Mononuclear phagocyte system structure (body structure) |
true |
Inferred relationship |
Some |
1 |
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
morphologie associée (attribut) |
Histiocytic proliferation (morphologic abnormality) |
true |
Inferred relationship |
Some |
1 |
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
Pathological process (attribute) |
Abnormal immune process (qualifier value) |
true |
Inferred relationship |
Some |
1 |
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
interprète (attribut) |
Body temperature (observable entity) |
true |
Inferred relationship |
Some |
6 |
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
a pour interprétation (attribut) |
au-dessus de l'étendue de référence |
true |
Inferred relationship |
Some |
6 |
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
localisation d'une constatation (attribut) |
structure du système immunitaire |
true |
Inferred relationship |
Some |
7 |
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
morphologie associée (attribut) |
Inflammatory morphology (morphologic abnormality) |
true |
Inferred relationship |
Some |
7 |
|
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
Pathological process (attribute) |
Abnormal immune process (qualifier value) |
true |
Inferred relationship |
Some |
7 |
|