type-I-interferon-geassocieerde auto-inflammatoire aandoening
|
SAMD9L-geassocieerd auto-inflammatoir syndroom (aandoening)
SAMD9L-geassocieerd auto-inflammatoir syndroom
SAMD9L-SAAD
SAMD9L-associated autoinflammatory syndrome
SAMD9L-SAAD - SAMD9L-associated autoinflammatory disease
Sterile alpha motif domain containing 9 like-associated autoinflammatory syndrome
A rare autoinflammatory syndrome characterized by nodular panniculitis, lipoatrophy, severe early-onset interstitial lung disease, and basal ganglia calcifications. Most patients have progressive isolated B-cell and natural killer cell cytopenias. Respiratory failure was also reported.
Id1365682007
StatusPrimitive
Associated morphologyinflammatoire morfologie
Finding sitestructuur van immuunsysteem
Pathological processafwijkend immuunproces
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetD89.8
RuleTRUE
AdviceALWAYS D89.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified