Autosomal recessive hereditary disorder
Congenital microcephaly
Congenital sensorineural hearing loss
Decreased hearing
Developmental hereditary disorder
Disorder of skeletal muscle
Genetic intellectual disability
Global developmental delay
Hearing loss associated with syndrome
Hereditary disorder of musculoskeletal system
Hereditary hearing loss
Neurodevelopmental delay
Poor muscle tone
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Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder)
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome
Microcephaly, intellectual disability, sensorineural deafness, epilepsy, abnormal muscle tone syndrome
A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination.
Id1254651003
StatusPrimitive
Has interpretationDecreased
InterpretsHearing
Has interpretationImpaired
InterpretsIntellectual ability
Has interpretationImpaired
InterpretsAdaptation behavior
Has interpretationAbnormally low
InterpretsMuscle tone
Has interpretationBelow reference range
InterpretsBirth head circumference
Associated morphologyAbnormal smallness
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteSkeletal muscle structure
OccurrenceCongenital
Finding siteStructure of auditory system
OccurrenceCongenital
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetQ02
RuleTRUE
AdviceALWAYS Q02 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified