syndroom van ichtyose en prematuriteit (aandoening) | | syndroom van ichtyose en prematuriteit | | syndroom van ichthyosis en prematuriteit IPS congenitale ichtyose type 4
| | Ichthyosis prematurity syndrome | | Congenital ichthyosis type 4
| | A rare syndromic congenital ichthyosis with characteristics of premature birth in addition to thick caseous and desquamating epidermis, neonatal respiratory asphyxia and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy. The disease is caused by mutation in the FATP4 (SLC27A4) gene. |
| Id | 763401009 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q82.8 | Term | Overige gespecificeerde congenitale misvormingen van huid |
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SNOMED CT to Orphanet simple map | 88621 |
SNOMED CT to ICD-10 extended map | Target | Q82.8 | Rule | TRUE | Advice | ALWAYS Q82.8 | 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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