||||||
metafysaire chondromatose gelijktijdig met D-2-hydroxyglutaaracidurie (aandoening)
metafysaire chondromatose gelijktijdig met D-2-hydroxyglutaaracidurie
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
An extremely rare genetic disorder with characteristics of the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.
Id724146008
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van cartilago
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ78.4
RuleTRUE
AdviceALWAYS Q78.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE72.3
RuleTRUE
AdviceALWAYS E72.3
CorrelationSNOMED CT source code to target map code correlation not specified