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syndroom van doofheid met aplasie van labyrint, microtie en microdontie (aandoening)
syndroom van doofheid met aplasie van labyrint, microtie en microdontie
LAMM-syndroom
Congenital deafness with labyrinthine aplasia, microtia and microdontia
LAMM syndrome
Congenital deafness with inner ear agenesis, microtia, and microdontia
A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive.
Id702360007
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van binnenoor
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ16.5
RuleTRUE
AdviceALWAYS Q16.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified