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Split hand, split foot malformation with sensorineural hearing loss syndrome (disorder)
Split hand, split foot malformation with sensorineural hearing loss syndrome
Congenital deafness with split hands and feet
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.
Id723611008
StatusPrimitive
InterpretsHearing
Associated morphologyDevelopmental failure of fusion
Finding siteHand structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDevelopmental failure of fusion
Finding siteFoot structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbsence
Finding siteEntire lesser toe
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbsence
Finding siteEntire finger
OccurrenceCongenital
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.2
TermCongenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten
SNOMED CT to ICD-10 extended map
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified