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syndroom van brachycefalie, doofheid, cataract en verstandelijke beperking (aandoening)
syndroom van brachycefalie, doofheid, cataract en verstandelijke beperking
syndroom van Fine-Lubinsky
syndroom van brachycefalie, doofheid, cataract en verstandelijke handicap
syndroom van Aymé-Gripp
syndroom van brachycefalie, doofheid, cataract en mentale retardatie
Fine Lubinsky syndrome
Brachycephaly, deafness, cataract, intellectual disability syndrome
Syndrome with characteristics of psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. Less than 10 patients have been described in the literature so far. Although the majority of reported cases were sporadic, the syndrome has been reported in one pair of siblings (a brother and sister) with an apparently autosomal recessive inheritance pattern.
Id720955004
StatusPrimitive
Associated morphologydeformiteit
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified