| Chronic neurovisceral acid sphingomyelinase deficiency (disorder) | | Chronic neurovisceral acid sphingomyelinase deficiency | | Niemann Pick disease type A/B
Chronic neurovisceral ASMD (acid sphingomyelinase deficiency)
NPD-A/B - Niemann Pick disease type A/B
| | A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features. |
| | Id | 1362021005 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | E75.2 | | Rule | TRUE | | Advice | ALWAYS E75.2 | 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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