| syndroom van doofheid, diverticulose van dunne darm en neuropathie (aandoening) | | syndroom van doofheid, diverticulose van dunne darm en neuropathie | | Deafness, small bowel diverticulosis, neuropathy syndrome | | Groll Hirschowitz syndrome
| | Syndrome with characteristics of progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). It has been described in five patients (three sisters in a family and two sisters born to consanguineous parents). This syndrome is transmitted as an autosomal recessive trait. |
| | Id | 733071009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | H90.5 | | Term | Gehoorverlies door perceptiestoornis, niet gespecificeerd |
| Target | G60.8 | | Term | Overige gespecificeerde hereditaire en idiopathische neuropathieën |
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| SNOMED CT to Orphanet simple map | 3217 |
| SNOMED CT to ICD-10 extended map | | Target | H90.5 | | Rule | TRUE | | Advice | ALWAYS H90.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | G60.8 | | Rule | TRUE | | Advice | ALWAYS G60.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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