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mesoaxiale synostotische syndactylie met falangeale reductie (aandoening)
mesoaxiale synostotische syndactylie met falangeale reductie
syndactylie type Malik-Percin
MSSD
syndactylie type 9
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome
Syndactyly Malik Percin type
Syndactyly type 9
A novel and distinct form of non-syndromic syndactyly including complete syndactyly of the third and fourth fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the second and third toes and fifth finger clinodactyly. It has been described in two families. The locus for this complex limb malformation was mapped to chromosome 17p13.3. The condition is transmitted as an autosomal recessive trait.
Id724170007
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ70.0
TermBenige vergroeiing van vingers
TargetQ70.2
TermBenige vergroeiing van tenen
SNOMED CT to Orphanet simple map157801
SNOMED CT to ICD-10 extended map
TargetQ70.0
RuleTRUE
AdviceALWAYS Q70.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ70.2
RuleTRUE
AdviceALWAYS Q70.2
CorrelationSNOMED CT source code to target map code correlation not specified