|||||||||
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie (aandoening)
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke handicap en faciale dysmorfie
syndroom van osteopenie, myopie, gehoorverlies, mentale retardatie en faciale dysmorfie
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome
This syndrome has characteristics of severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.
Id722111004
StatusPrimitive
Associated morphologyosteopenie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified