| OTULIN-gerelateerd auto-inflammatoir syndroom (aandoening) | | OTULIN-gerelateerd auto-inflammatoir syndroom | | syndroom met infantiele periodieke koorts, panniculitis en dermatose
ORAS
otulipenie
| | OTULIN-related autoinflammatory syndrome | | Otulipenia
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome
Infantile-onset periodic fever, panniculitis, dermatosis syndrome
OTULIN (OTU deubiquitinase with linear linkage specificity) related autoinflammatory syndrome
| | A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection. |
| | Id | 765435009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| SNOMED CT to ICD-10 extended map | | Target | D89.8 | | Rule | TRUE | | Advice | ALWAYS D89.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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