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'brittle cornea'-syndroom (aandoening)
'brittle cornea'-syndroom
BCS
Brittle cornea syndrome
Ehlers-Danlos syndrome type 6B
A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.
Id719096006
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van cornea
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationdun
InterpretsCorneal thickness
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map90354
SNOMED CT to ICD-10 extended map
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