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syndroom van verstandelijke beperking, cataract en kyfose (aandoening)
syndroom van verstandelijke beperking, cataract en kyfose
syndroom van verstandelijke handicap, cataract en kyfose
syndroom van mentale retardatie, cataract en kyfose
Intellectual disability with cataract and kyphosis syndrome
This syndrome has characteristics of severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. The syndrome has been described in three siblings. The two brothers also presented with iris coloboma. Other clinical findings include contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. The disease is linked to the pericentromeric region of chromosome 4. Transmission is autosomal recessive.
Id722003007
StatusPrimitive
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetF72.9
RuleTRUE
AdviceALWAYS F72.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH26.0
RuleTRUE
AdviceALWAYS H26.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ76.4
RuleTRUE
AdviceALWAYS Q76.4
CorrelationSNOMED CT source code to target map code correlation not specified