| syndroom van hydrocefalie, hartmalformatie en hoge botdensiteit (aandoening) | | syndroom van hydrocefalie, hartmalformatie en hoge botdensiteit | | syndroom van hydrocephalus, hartmalformatie en hoge botdensiteit
syndroom van Beemer-Ertbruggen
| | Beemer Ertbruggen syndrome | | Hydrocephalus, cardiac malformation, dense bone syndrome
Beemer lethal malformation syndrome
| | A lethal malformation syndrome reported in 2 brothers of first-cousin parents with characteristics of hydrocephalus, cardiac malformation, dense bones and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984. |
| | Id | 717859007 | | 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 | 1237 |
| 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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