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
| | A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additional neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985. |
| Id | 733071009 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 3217 |
SNOMED CT to ICD-10 extended map | Target | G60.8 | Rule | TRUE | Advice | ALWAYS G60.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | H90.5 | Rule | TRUE | Advice | ALWAYS H90.5 | Correlation | SNOMED CT source code to target map code correlation not specified |
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