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cheiro-spondylo-enchondromatose (aandoening)
cheiro-spondylo-enchondromatose
gegeneraliseerde enchondromatose met platyspondylie
Cheirospondyloenchondromatosis
Generalized enchondromatosis with platyspondyly
An extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) with characteristics of symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.
Id725104005
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van cartilago
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ78.4
TermEnchondromatose
SNOMED CT to Orphanet simple map99647
SNOMED CT to ICD-10 extended map
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