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Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
Syndrome with the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphism, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive.
syndroom van dentinogenesis imperfecta, kleine gestalte, gehoorverlies en verstandelijke beperking
syndroom van dentinogenesis imperfecta, kleine gestalte, gehoorverlies en mentale retardatie
syndroom van dentinogenesis imperfecta, kleine gestalte, gehoorverlies en verstandelijke handicap
Id721089006
StatusPrimitive
InterpretsHearing
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteDentin structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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