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acrodysplasia scoliosis (aandoening)
acrodysplasia scoliosis
syndroom van Prata-Liberal-Goncalves
syndroom van acrodysostose en scoliose
Prata-Liberal-Goncalves-syndroom
syndroom van brachydactylie, scoliose en carpale fusie
syndroom van acrodysplasie en scoliose
Acrodysplasia scoliosis
Prata Liberal Goncalves syndrome
Brachydactyly, scoliosis, carpal fusion syndrome
A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.
Id773773006
StatusPrimitive
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
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map2956
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified