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syndroom van congenitaal cataract, hypertrichose en verstandelijke beperking (aandoening)
syndroom van congenitaal cataract, hypertrichose en verstandelijke beperking
CAHMR-syndroom
syndroom van congenitaal cataract, hypertrichose en verstandelijke handicap
syndroom van congenitaal cataract, hypertrichose en mentale retardatie
Congenital cataract with hypertrichosis and intellectual disability syndrome
CAHMR (cataract, hypertrichosis, mental retardation) syndrome
CAHMR syndrome
This syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait.
Id722379001
StatusPrimitive
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyverandering in groei
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ12.0
RuleTRUE
AdviceALWAYS Q12.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ84.2
RuleTRUE
AdviceALWAYS Q84.2
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified