congenitale anomalie van chromosomenpaar 8
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syndroom door recombinant chromosoom 8 (aandoening)
syndroom door recombinant chromosoom 8
Recombinant chromosome 8 syndrome
San Luis Valley syndrome
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
Id718189004
StatusPrimitive
Associated morphologyverandering van chromosoomstructuur
Finding sitechromosomenpaar 8
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96167
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified