Autosomal recessive ichthyosis
|
Ichthyosis prematurity syndrome (disorder)
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.
syndroom van ichtyose en prematuriteit
syndroom van ichthyosis en prematuriteit
IPS
congenitale ichtyose type 4
Id763401009
StatusPrimitive
Associated morphologyHyperkeratosis
Finding siteEntire skin
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbnormal
InterpretsKeratinization
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified