Autosomal recessive hereditary disorder
Bone injury
Congenital anomaly of skeletal bone
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Injury of face
Lesion of bone
Multiple dislocations with dysplasia
Multiple malformation syndrome with facial defects as major feature
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Desbuquois syndrome (disorder)
Desbuquois syndrome
Desbuquois dysplasia
Id254099008
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDislocation
Finding siteJoint structure of multiple body sites
Clinical courseProgressive
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Due toSpontaneous event
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ78.8
TermOverige gespecificeerde osteochondrodysplasieën
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified