atypische ziekte van Krabbe door deficiƫntie van saposine A (aandoening) | | atypische ziekte van Krabbe door deficiƫntie van saposine A | | atypische ziekte van Krabbe door saposine A-tekort
| | Atypical Krabbe disease due to saposin A deficiency | | Disease caused by homozygous mutation in the prosaposin gene (PSAP) on chromosome 10q22. The disease is genetically distinct from Krabbe disease. Clinical features include onset in infancy with respiratory and neurologic involvement. |
| Id | 1296731001 | 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 |
|
|