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corneodermato-osseus syndroom (aandoening)
corneodermato-osseus syndroom
syndroom van Stern-Lubinsky-Durrie
Stern Lubinsky Durrie syndrome
Corneodermatoosseous syndrome
Corneo-dermato-osseous syndrome
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.
Id723584003
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van nagel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH18.5
TermHereditaire corneadystrofieën
TargetQ82.4
TermEctodermale dysplasie (anhidrotisch)
SNOMED CT to Orphanet simple map3194
SNOMED CT to ICD-10 extended map
TargetH18.5
RuleTRUE
AdviceALWAYS H18.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ82.4
RuleTRUE
AdviceALWAYS Q82.4
CorrelationSNOMED CT source code to target map code correlation not specified