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spondylo-epimetafysaire dysplasie met meervoudige luxaties (aandoening)
spondylo-epimetafysaire dysplasie met meervoudige luxaties
spondylo-epimetafysaire dysplasie met gewrichtslaxiteit type 2
spondylo-epimetafysaire dysplasie met gewrichtslaxiteit type Hall
SEMD met meervoudige luxaties
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia with joint laxity Hall type
Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type
Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type
Spondyloepimetaphyseal dysplasia with joint laxity type 2
A rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (for example kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly among others.
Id766820007
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
Associated morphologybeschadiging
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ77.7
RuleTRUE
AdviceALWAYS Q77.7
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ68.8
RuleTRUE
AdviceALWAYS Q68.8
CorrelationSNOMED CT source code to target map code correlation not specified