| Fibrosis, neurodegeneration, cerebral angiomatosis syndrome (disorder) | | Fibrosis, neurodegeneration, cerebral angiomatosis syndrome | | FINCA (fibrosis, neurodegeneration, cerebral angiomatosis) syndrome
Interstitial lung fibrosis, neurodegeneration, cerebral angiomatosis syndrome
| | A rare interstitial lung disease characterized by early-onset, severe, progressive lung disease manifesting by respiratory distress, neurological symptoms including axial hypotonia, developmental delay, irritability, dystonia, poor visual contact and seizures, and variable multisystemic involvement including malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and liver dysfunction. Kidney dysfunction, cardiac involvement including cardiomegaly and cardiac hypertrophy, decreased vision and strabismus have also been reported. Lung fibrosis may cause death in infancy from respiratory failure. |
| | Id | 1348304006 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | J84.1 | | Rule | TRUE | | Advice | ALWAYS J84.1 | 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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