autosomaal dominante hereditaire aandoening
hereditaire ontwikkelingsstoornis
symbrachydactylie
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brachydactylie met syndactylie Zhao-type (aandoening)
brachydactylie met syndactylie Zhao-type
Brachydactyly with syndactyly Zhao type
A recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the second and fifth fingers and absence of middle phalanges of the second to fifth toes) and a syndactyly of the second and third toes. Metacarpals and metatarsals anomalies are common. This syndrome has been described in two families. It is caused by HOXD13 mutations in 2q31-q32. Inherited as an autosomal dominant trait.
Id720572004
StatusPrimitive
Associated morphologyAbnormally fused structure
Finding sitestructuur van digitus van hand of voet
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyabnormaal korte groei
Finding sitegehele digitus van hand of voet
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ70.3
TermTenen met vliezige verbinding
TargetQ72.8
TermOverige gespecificeerde onderontwikkeling van onderste extremiteit(en)
TargetQ71.8
TermOverige gespecificeerde onderontwikkeling van bovenste extremiteit(en)
SNOMED CT to Orphanet simple map93409
SNOMED CT to ICD-10 extended map
TargetQ70.3
RuleTRUE
AdviceALWAYS Q70.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ72.8
RuleTRUE
AdviceALWAYS Q72.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ71.8
RuleTRUE
AdviceALWAYS Q71.8
CorrelationSNOMED CT source code to target map code correlation not specified