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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
Id717859007
StatusPrimitive
Associated morphologyDilatation
Finding siteBrain cerebrospinal fluid pathway
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteHeart structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified