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
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| Id | 1172604004 | Status | Primitive |
ICD-10 complex map reference set | Target | H90.3 | Rule | TRUE | Advice | ALWAYS H90.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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