| encefalopathie door prosaposinedeficiëntie (aandoening) | | encefalopathie door prosaposinedeficiëntie | | encefalopathie door deficiëntie van prosaposine
gecombineerde prosaposinedeficiëntie
| | Encephalopathy due to prosaposin deficiency | | Combined saposin deficiency
Combined prosaposin deficiency
| | A lysosomal storage disease belonging to the group of sphingolipidoses. It is very rare with less than 10 cases reported in the literature so far. Clinically, it is a severe neurovisceral disease manifesting immediately after birth and following a rapidly progressive fatal course. The neurological signs and symptoms include hypotonia, massive myoclonic bursts, abnormal ocular movements and dystonia. Grand mal seizures and seizures triggered by tactile stimuli have been described. Patients also develop hepatosplenomegaly. Death usually occurs from respiratory failure following repeated pulmonary infections. The disease is caused by mutations in the PSAP gene (10q21) leading to absence or non-functionality of the prosaposin protein. The mode of inheritance is autosomal recessive. |
| | Id | 720864008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E75.2 | | Term | Overige gespecificeerde sfingolipidosen |
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| SNOMED CT to Orphanet simple map | 139406 |
| SNOMED CT to ICD-10 extended map | | Target | E75.2 | | Rule | TRUE | | Advice | ALWAYS E75.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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