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Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
Congenital hereditary facial paralysis with variable hearing loss syndrome
Congenital hereditary facial palsy with variable deafness
An extremely rare autosomal recessive disorder with characteristics of bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears) and strabismus.
syndroom van congenitale hereditaire faciale paralyse en wisselend gehoorverlies
syndroom van congenitale hereditaire gezichtsverlamming en wisselend gehoorverlies
Id722389002
StatusPrimitive
InterpretsHearing
Has interpretationAbsent
InterpretsGross movement of body and limbs
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
InterpretsMovement
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified