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syndroom van congenitale hereditaire faciale paralyse en wisselend gehoorverlies (aandoening)
syndroom van congenitale hereditaire faciale paralyse en wisselend gehoorverlies
syndroom van congenitale hereditaire gezichtsverlamming en wisselend gehoorverlies
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.
Id722389002
StatusPrimitive
Interpretsgehoorfunctie
Has interpretationafwezig
InterpretsMovement observable
InterpretsMovement
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.0
TermCongenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan
SNOMED CT to Orphanet simple map306530
SNOMED CT to ICD-10 extended map
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