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spondylo-epimetafysaire dysplasie van anauxetisch type (aandoening)
spondylo-epimetafysaire dysplasie van anauxetisch type
spondylo-epimetafysaire dysplasie type Menger
anauxetische dysplasie
Spondyloepimetaphyseal dysplasia anauxetic type
Anauxetic dysplasia
Spondyloepimetaphyseal dysplasia Menger type
Syndrome with characteristics of extremely short stature and other skeletal abnormalities including kyphoscoliosis, hyperlordosis, hip dislocation, hypermobility, dental problems and distinctive facial features. Mild intellectual disability may also be present. The disorder can be caused by mutations in the RMRP gene. This condition is inherited in an autosomal recessive pattern.
Id764460003
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ77.7
RuleTRUE
AdviceALWAYS Q77.7 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified