Developmental hereditary disorder
Disorder of skeletal muscle
Disorder of skeletal muscle
Disruptive behavior disorder
Disruptive behavior disorder
Hereditary disorder of musculoskeletal system
Hereditary disorder of musculoskeletal system
Hereditary myopathy
Intellectual disability
Multiple malformation syndrome with facial defects as major feature
Multiple malformation syndrome with facial defects as major feature
Poor muscle tone
Poor muscle tone
X-linked recessive hereditary disease
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X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome
This syndrome is characterized by severe intellectual deficit, hypotonia, mild facial dysmorphism and aggressive behavior. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.
X-gebonden syndroom van verstandelijke beperking, hypotonie, faciale dysmorfie en agressief gedrag
X-gebonden syndroom van verstandelijke handicap, hypotonie, faciale dysmorfie en agressief gedrag
X-gebonden syndroom van mentale retardatie, hypotonie, faciale dysmorfie en agressief gedrag
Id719157002
StatusPrimitive
Finding siteSkeletal muscle structure
InterpretsMuscle tone
Finding siteSkeletal muscle structure
InterpretsMuscle tone
Associated morphologyMorphologically abnormal structure
Finding siteFace 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