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syndroom van disharmonische skeletale maturatie en spiervezeldisproportie (aandoening)
syndroom van disharmonische skeletale maturatie en spiervezeldisproportie
syndroom van Qazi-Markouizos
Puerto Rican infant hypotonia syndrome
Dysharmonic skeletal maturation and muscular fiber disproportion syndrome
Qazi Markouizos syndrome
This syndrome is characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.
Id721887007
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsspiertonus
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified