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X-gebonden recessieve ichthyosis (aandoening)
X-gebonden recessieve ichthyosis
Syndromic recessive X-linked ichthyosis
Syndromic X-linked ichthyosis
A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) characterized by a generally mild cutaneous desquamation in association with extracutaneous manifestations as part of a syndrome.
Id717041008
StatusPrimitive
Associated morphologyhyperkeratose
Finding sitegehele huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretskeratinisatie
SNOMED CT to Orphanet simple map281090
SNOMED CT to ICD-10 extended map
TargetQ80.1
RuleTRUE
AdviceALWAYS Q80.1
CorrelationSNOMED CT source code to target map code correlation not specified