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ernstige X-gebonden verstandelijke beperking type Gustavson (aandoening)
ernstige X-gebonden verstandelijke beperking type Gustavson
ernstige X-gebonden mentale retardatie type Gustavson
ernstige X-gebonden verstandelijke handicap type Gustavson
Severe X-linked intellectual disability Gustavson type
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.
Id722213009
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van nervus opticus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwijkend klein
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsgehoorfunctie
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetF72.9
TermErnstige zwakzinnigheid; Zonder vermelding van gedragsstoornissen
SNOMED CT to Orphanet simple map3078
SNOMED CT to ICD-10 extended map
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