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syndroom van korte rib en polydactylie type I (aandoening)
syndroom van korte rib en polydactylie type I
syndroom van korte rib en polydactylie type Saldino-Noonan
Short rib polydactyly syndrome Saldino Noonan type
Short rib polydactyly syndrome type I
Saldino Noonan syndrome
Short rib polydactyly syndrome type 1
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age.
Id726032008
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van costa
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwijkend klein
Finding sitegehele extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map93270
SNOMED CT to ICD-10 extended map
TargetQ77.2
RuleTRUE
AdviceALWAYS Q77.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified