syndroom van foetale akinesie, cerebrale bloeding en retinale bloeding (aandoening) | | syndroom van foetale akinesie, cerebrale bloeding en retinale bloeding | | letaal congenitaal contractuursyndroom type 5 LCCS5
| | Lethal congenital contracture syndrome type 5 | | Fetal akinesia, cerebral and retinal hemorrhage syndrome
| | A rare lethal congenital myopathy syndrome characterized by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. |
| Id | 763346009 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | G71.2 | Term | Congenitale myopathieën |
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SNOMED CT to Orphanet simple map | 363409 |
SNOMED CT to ICD-10 extended map | Target | G71.2 | Rule | TRUE | Advice | ALWAYS G71.2 | 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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