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Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome (disorder)
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.
DIAPH1-gerelateerd syndroom van perceptief gehoorverlies en trombocytopenie
'diaphanous related formin 1'-gerelateerd syndroom van perceptief gehoorverlies en trombocytopenie
Id1172604004
StatusPrimitive
Clinical courseProgressive
Has interpretationImpaired
InterpretsHearing
Has interpretationAbnormal
InterpretsHemostatic function
Has interpretationBelow reference range
InterpretsPlatelet count
ICD-10 complex map reference set
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