congenitale macrocefalie
genetische verstandelijke beperking
hereditaire ontwikkelingsstoornis
polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
polymalformatief syndroom met vroege overgroei
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overgroeisyndroom van Malan (aandoening)
overgroeisyndroom van Malan
syndroom van Sotos 2
Malan overgrowth syndrome
Sotos syndrome 2
A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.
Id763795006
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van aangezicht
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyvergroting
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationboven referentiebereik
Interpretshoofdomtrek
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map420179
SNOMED CT to ICD-10 extended map
TargetQ87.3
RuleTRUE
AdviceALWAYS Q87.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified