|
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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ80.1
TermX-gebonden ichthyose
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