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Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
Thumb stiffness, brachydactyly, intellectual disability syndrome
Piussan Lenaerts Mathieu syndrome
Syndrome with characteristics of intellectual deficit, mild dysmorphism, type A brachydactyly, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.
syndroom van stijve digitus I, brachydactylie en verstandelijke beperking
syndroom van stijve duim, brachydactylie en mentale retardatie
syndroom van stijve duim, brachydactylie en verstandelijke handicap
syndroom van stijve duim, brachydactylie en verstandelijke beperking
syndroom van Piussan-Lenaerts-Mathieu
Id733117001
StatusPrimitive
Associated morphologyAnkylosis
Finding siteThumb joint structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbnormally short growth
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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