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8q13 microdeletion syndrome (disorder)
8q13 microdeletion syndrome
Verloes David syndrome
Monosomy 8q13
Mesomelic dysplasia with acral synostoses Verloes David Pfeiffer type
Mesomelia synostoses syndrome Verloes David Pfeiffer type
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies.
Id724147004
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDeletion of long arm
Finding siteChromosome pair 8
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyPartial monosomy
Finding siteChromosome pair 8
OccurrenceCongenital
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified