Auditory system hereditary disorder
Autosomal recessive hereditary disorder
Congenital anomaly of ear with impairment of hearing
Congenital anomaly of inner ear
Congenital anomaly of tooth
Congenital deafness
Developmental hereditary disorder
Hearing loss associated with syndrome
Hereditary disorder of tooth
Microdontia
Microtia
Multiple system malformation syndrome
||||||||||||
Congenital deafness with labyrinthine aplasia, microtia and microdontia (disorder)
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.
syndroom van doofheid met aplasie van labyrint, microtie en microdontie
LAMM-syndroom
Id702360007
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteTooth structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital smallness
Finding siteExternal ear structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteInner ear structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyGrowth alteration
Finding siteTooth structure
Pathological processPathological developmental process
InterpretsHearing
ICD-10 complex map reference set
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