Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | | 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. | | syndroom van hydrocefalie, hartmalformatie en hoge botdensiteit | | syndroom van hydrocephalus, hartmalformatie en hoge botdensiteit syndroom van Beemer-Ertbruggen
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| Id | 717859007 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | 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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