|||||||
syndroom van preaxiale polydactylie, coloboom en verstandelijke beperking (aandoening)
syndroom van preaxiale polydactylie, coloboom en verstandelijke beperking
syndroom van preaxiale polydactylie, coloboom en mentale retardatie
syndroom van Pfeiffer-Mayer
syndroom van preaxiale polydactylie, coloboom en verstandelijke handicap
Preaxial polydactyly, colobomata, intellectual disability syndrome
Pfeiffer Mayer syndrome
Syndrome with characteristics of growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of siblings (brother and sister). The mode of transmission is thought to be autosomal recessive.
Id733088002
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van bulbus oculi
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified