| syndroom van algehele ontwikkelingsachterstand, visusafwijking, progressieve cerebellaire atrofie en hypotonie van romp (aandoening) | | syndroom van algehele ontwikkelingsachterstand, visusafwijking, progressieve cerebellaire atrofie en hypotonie van romp | | syndroom van algehele ontwikkelingsachterstand, afwijking van gezichtsvermogen, progressieve cerebellaire atrofie en hypotonie van romp
| | Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome | | A rare genetic neurological disorder with characteristics of mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia). |
| | Id | 1172696009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 480898 |
| SNOMED CT to ICD-10 extended map | | Target | G31.8 | | Rule | TRUE | | Advice | ALWAYS G31.8 | 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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