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syndroom van ichtyose, alopecia, eclabium, ectropion en verstandelijke beperking (aandoening)
syndroom van ichtyose, alopecia, eclabium, ectropion en verstandelijke beperking
syndroom van ichtyose, alopecia, eclabium, ectropion en mentale retardatie
syndroom van ichtyose, alopecia, eclabium, ectropion en verstandelijke handicap
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
Jagell, Holmgren, Hofer syndrome
An ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.
Id763404001
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyproliferatieve hyperkeratose
Finding sitegehele huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretskeratinisatie
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified