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spondylo-epimetafysaire dysplasie met gewrichtslaxiteit EXOC6B-type (aandoening)
spondylo-epimetafysaire dysplasie met gewrichtslaxiteit EXOC6B-type
SEMDJL3
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type
SEMDJL3 - spondyloepimetaphyseal dysplasia with joint laxity type 3
Spondyloepimetaphyseal dysplasia with joint laxity type 3
Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type
A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal.
Id1286834000
StatusPrimitive
Clinical courseprogressief
Associated withskeletdysplasie
Has interpretationverhoogd
Interprets'range of motion' van gewricht
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to ICD-10 extended map
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