autosomaal recessieve hereditaire aandoening
congenitale microcefalie
hereditaire ontwikkelingsstoornis
malformatiesyndroom met betrokkenheid van meerdere systemen
primordiale dwerggroei
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microcefale primordiale dwerggroei Toriello-type (aandoening)
microcefale primordiale dwerggroei Toriello-type
Microcephalic primordial dwarfism Toriello type
Microcephalic primordial dwarfism of Toriello type
Growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. Transmission is autosomal recessive.
Id715482004
StatusPrimitive
Associated morphologyafwijkend klein
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
Interpretsmeetbare observatie betreffende lengte en/of groei
Has interpretationonder referentiebereik
Interpretshoofdomtrek bij geboorte
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map2643
SNOMED CT to ICD-10 extended map
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1
CorrelationSNOMED CT source code to target map code correlation not specified