Auditory system hereditary disorder
Congenital anomaly of optic nerve
Congenital atrophy of optic nerve
Congenital degeneration of nervous system
Congenital hearing disorder
Congenital hearing loss
Congenital microcephaly
Developmental hereditary disorder
Disorder of sensory function
Hearing loss associated with syndrome
Hereditary degenerative disease of central nervous system
Inherited optic neuropathy
Intellectual disability
Multiple malformation syndrome with facial defects as major feature
X-linked recessive hereditary disease
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Severe X-linked intellectual disability Gustavson type (disorder)
Severe X-linked intellectual disability Gustavson type
This syndrome has characteristics of X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.
ernstige X-gebonden verstandelijke beperking type Gustavson
ernstige X-gebonden verstandelijke handicap type Gustavson
ernstige X-gebonden mentale retardatie type Gustavson
Id722213009
StatusPrimitive
Finding siteStructure of auditory system
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAtrophy
Finding siteOptic nerve structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital smallness
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsBirth head circumference
Has interpretationImpaired
InterpretsHearing
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetF72.9
RuleTRUE
AdviceALWAYS F72.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified