Autosomal dominant hereditary disorder
Developmental hereditary disorder
Symbrachydactyly
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Brachydactyly with syndactyly Zhao type (disorder)
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.
brachydactylie met syndactylie Zhao-type
Id720572004
StatusPrimitive
Associated morphologyCongenital abnormal fusion
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbnormally short growth
Finding siteEntire digit
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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