autosomaal dominante hereditaire aandoening
chronische ziekte
gehoorverlies bij syndroom
hereditaire aandoening van auditief systeem
hereditaire trombocytopenie
perceptief gehoorverlies
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'diaphanous related formin 1'-gerelateerd syndroom van perceptief gehoorverlies en trombocytopenie (aandoening)
DIAPH1-gerelateerd syndroom van perceptief gehoorverlies en trombocytopenie
'diaphanous related formin 1'-gerelateerd syndroom van perceptief gehoorverlies en trombocytopenie
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
DIAPH1-related sensorineural deafness, thrombocytopenia syndrome
Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome
A rare genetic disease with characteristics of progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.
Id1172604004
StatusPrimitive
Clinical courseprogressief
Finding sitestructuur van auditief systeem
Has interpretationgestoord
Interpretsgehoorfunctie
Has interpretationafwijkend
Interpretshemostase
Has interpretationonder referentiebereik
InterpretsPlatelet count
SNOMED CT to Orphanet simple map494444
SNOMED CT to ICD-10 extended map
TargetH90.3
RuleTRUE
AdviceALWAYS H90.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified