| syndroom van hydrocefalie met endocardiale fibro-elastose en cataract (aandoening) | | syndroom van hydrocefalie met endocardiale fibro-elastose en cataract | | syndroom van hydrocephalus met endocardiale fibro-elastose en staar
| | Hydrocephalus with endocardial fibroelastosis and cataract syndrome | | HEC (hydrocephalus, endocardial fibroelastosis, cataract) syndrome
HEC syndrome
| | Syndrome that is characterized by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed. |
| | Id | 721015008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 2119 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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