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ernstige X-gebonden verstandelijke beperking type Gustavson (aandoening)
ernstige X-gebonden verstandelijke beperking type Gustavson
ernstige X-gebonden verstandelijke handicap type Gustavson
ernstige X-gebonden mentale retardatie type Gustavson
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.
Id722213009
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van nervus opticus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale kleinheid
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
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