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metafysaire chondrodysplasie Kaitila-type (aandoening)
metafysaire chondrodysplasie Kaitila-type
Metaphyseal chondrodysplasia Kaitila type
Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.
Id770909004
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map166038
SNOMED CT to ICD-10 extended map
TargetQ78.5
RuleTRUE
AdviceALWAYS Q78.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified