| syndroom van vroeg optredende epileptische aanvallen, afwijkingen van distale extremiteit, faciale dysmorfie en algehele ontwikkelingsachterstand (aandoening) | | syndroom van vroeg optredende epileptische aanvallen, afwijkingen van distale extremiteit, faciale dysmorfie en algehele ontwikkelingsachterstand | | syndroom van vroeg optredende insulten, distale extremiteitafwijkingen, faciale dysmorfie en algehele ontwikkelingsachterstand
syndroom van vroeg optredende convulsies, distale extremiteitafwijkingen, faciale dysmorfie en algemene ontwikkelingsachterstand
| | Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome | | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of variable developmental delay, intellectual disability, early-onset seizures and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities or cortical atrophy. |
| | Id | 1187042007 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 505237 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | 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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