Autosomal recessive hereditary disorder
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Polydactyly
Short rib dysplasia
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Short rib polydactyly syndrome (disorder)
Short rib polydactyly syndrome
Id205484001
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure of rib
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologySupernumerary structure
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ77.2
TermKorte-ribsyndroom
SNOMED CT to ICD-10 extended map
TargetQ77.2
RuleTRUE
AdviceALWAYS Q77.2
CorrelationSNOMED CT source code to target map code correlation not specified
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Short rib polydactyly syndrome Saldino Noonan type
Short rib polydactyly syndrome type 5
Short rib-polydactyly syndrome, Majewski type
Type III short rib polydactyly syndrome
Type IV short rib polydactyly syndrome