syndroom van corticale blindheid, verstandelijke beperking en polydactylie (aandoening) | | syndroom van corticale blindheid, verstandelijke beperking en polydactylie | | syndroom van corticale blindheid, mentale retardatie en polydactylie syndroom van corticale blindheid, verstandelijke handicap en polydactylie
| | Cortical blindness, intellectual disability, polydactyly syndrome | | Syndrome with characteristics of cortical blindness, intellectual deficit and polydactyly. This combination was found in three children of first-cousin parents. The facial features included prominent forehead, short nose, long philtrum and microretrognathia. Two of the three children died of acute gastroenteritis. Growth and psychomotor development were severely delayed. |
| Id | 732251003 | Status | Primitive |
referentieset met complexe 'mapping' naar ICD-10 | Target | H47.6 | Rule | TRUE | Advice | ALWAYS H47.6 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | F79.9 | Rule | TRUE | Advice | ALWAYS F79.9 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | Q69.9 | Rule | TRUE | Advice | ALWAYS Q69.9 | Correlation | SNOMED CT source code to target map code correlation not specified |
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