| syndroom van vroeg optredende progressieve diffuse hersenatrofie, microcefalie, spierzwakte en opticusatrofie (aandoening) | | syndroom van vroeg optredende progressieve diffuse hersenatrofie, microcefalie, spierzwakte en opticusatrofie | | Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome | | A rare severe early-onset neurodegenerative encephalopathy with main characteristic developmental delay/regression, epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies. This syndrome is caused by biallelic pathogenic variants in TBCD gene (17q25.3), encoding tubulin folding co-factor D (TBCD), one of five co-chaperones required for microtubule assembly dynamics. The pattern of inheritance is autosomal recessive. |
| | Id | 1172593006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 496641 |
| SNOMED CT to ICD-10 extended map | | Target | G31.9 | | Rule | TRUE | | Advice | ALWAYS G31.9 | 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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