| neuronale ceroïdlipofuscinose door cathepsine D-deficiëntie (aandoening) | | neuronale ceroïdlipofuscinose door cathepsine D-deficiëntie | | neuronale ceroïdlipofuscinose door deficiëntie van cathepsine D
| | Congenital neuronal ceroid lipofuscinosis | | Neuronal ceroid lipofuscinosis due to cathepsin D deficiency
Neuronal ceroid lipofuscinosis 10
Cathepsin D deficient neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
| | A severe form of neuronal ceroid lipofuscinosis with onset at birth and characteristics of primary microcephaly, neonatal epilepsy and death in early infancy. It is a rare form of neuronal ceroid lipofuscinosis with only around 10 cases reported in the literature so far. Patients present with postnatal respiratory insufficiency, seizures immediately after birth and a lower than normal head circumference. Transmitted in an autosomal recessive manner and is caused by mutations in the CTSD gene (designated CLN10; 11p15.5) encoding the lysosomal enzyme cathepsin D. |
| | Id | 720830009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E75.4 | | Term | Neuronale ceroïde lipofuscinose |
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| SNOMED CT to Orphanet simple map | 168486 |
| SNOMED CT to ICD-10 extended map | | Target | E75.4 | | Rule | TRUE | | Advice | ALWAYS E75.4 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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