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Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)
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.
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
Id722379001
StatusPrimitive
Associated morphologyOpacity
Finding siteLens clear
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyGrowth alteration
Finding siteHair structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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