| pontocerebellaire hypoplasie type 4 (aandoening) | | pontocerebellaire hypoplasie type 4 | | PCH4
| | Congenital pontocerebellar hypoplasia type 4 | | PCH4 - pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 4
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
| | A very rare form of PCH with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Has been reported in 10 families to date. Caused by a compound heterozygosity for p.A307S plus non-sense or splice site mutations in the TSEN54 gene. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. Inherited in an autosomal recessive manner. |
| | Id | 718608006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q04.3 | | Term | Overige onderontwikkeling van hersenen |
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| SNOMED CT to Orphanet simple map | 166063 |
| SNOMED CT to ICD-10 extended map | | Target | Q04.3 | | Rule | TRUE | | Advice | ALWAYS Q04.3 | 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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