| syndroom van ichthyosis congenita, verstandelijke beperking en spastische tetraplegie (aandoening) | | syndroom van ichthyosis congenita, verstandelijke beperking en spastische tetraplegie | | syndroom van congenitale ichthyosis, verstandelijke handicap en spastische quadriplegie
| | Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome | | ELOVL4-related neuro ichthyosis
ELOVL4 (elongation of very long chain fatty acids-like 4) related neuro ichthyosis
| | A rare autosomal ichthyosis syndrome with prominent neurologic signs and the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. |
| | Id | 1208936008 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 352333 |
| SNOMED CT to ICD-10 extended map | | Target | Q80.8 | | Rule | TRUE | | Advice | ALWAYS Q80.8 | 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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