| syndroom van ichthyosis congenita, microcefalie en tetraplegie (aandoening) | | syndroom van ichthyosis congenita, microcefalie en tetraplegie | | ELOVL4-gerelateerde ichtyose met neurologische verschijnselen
| | Congenital ichthyosis, microcephalus, tetraplegia syndrome | | Congenital ichthyosis, microcephalus, quadriplegia syndrome
| | A rare autosomal ichthyosis syndrome with prominent neurologic signs and the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. |
| | Id | 1197059004 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 2271 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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