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Larsen-achtig syndroom bèta-1,3-glucuronyltransferase 3-type (aandoening)
Larsen-achtig syndroom bèta-1,3-glucuronyltransferase 3-type
Larsen-achtig syndroom B3GAT3-type
Larsen-like syndrome B3GAT3 type
Multiple joint dislocations, short stature, craniofacial dysmorphism, congenital heart defects syndrome
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type
A rare genetic primary bone dysplasia with characteristics of laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.
Id763778003
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets‘range of motion’ van gewricht
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
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