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syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie (aandoening)
syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie
Larsen-achtig syndroom van Réunion
Reunion Island Larsen-like syndrome
Multiple joint dislocations, short stature, hyperlaxity, craniofacial dysmorphism syndrome
A rare genetic congenital disorder of glycosylation with characteristics of severe pre and post-natal short stature, joint hyperlaxity with multiple dislocations (elbows, fingers, hips, knees), and facial dysmorphism (round flat face, high forehead, hypertelorism, prominent bulging eyes with under-eye shadows, hypoplastic midface, microstomia, protruding lips). Other associated features may include cutaneous hyperextensibility, learning difficulties and ocular abnormalities. Advanced carpal ossification, widened metaphyses, and, occasionally, radioulnar synostosis, scoliosis and a Swedish key appearance of the proximal femora is observed on imaging.
Id783559007
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van skeletstelsel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
Associated morphologybeschadiging
referentieset met complexe 'mapping' naar ICD-10
TargetQ74.8
RuleTRUE
AdviceALWAYS Q74.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified