Autosomal recessive hereditary disorder
Autosomal recessive hereditary disorder
Congenital anomaly of skeletal bone
Congenital anomaly of skeletal bone
Congenital anomaly of skeletal muscle
Congenital anomaly of skeletal muscle
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Hereditary disorder of musculoskeletal system
Hereditary myopathy
Multiple malformation syndrome with facial defects as major feature
Multiple malformation syndrome with facial defects as major feature
Poor muscle tone
Poor muscle tone
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Puerto Rican infant hypotonia syndrome (disorder)
Puerto Rican infant hypotonia syndrome
Qazi Markouizos syndrome
Dysharmonic skeletal maturation and muscular fiber disproportion 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.
syndroom van disharmonische skeletale maturatie en spiervezeldisproportie
syndroom van Qazi-Markouizos
Id721887007
StatusPrimitive
InterpretsMuscle tone
InterpretsMuscle tone
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteSkeletal muscle structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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