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syndroom van 'activity dependent neuroprotector homeobox'-gerelateerde multipele congenitale afwijkingen, verstandelijke beperking en autismespectrumstoornis (aandoening)
syndroom van 'activity dependent neuroprotector homeobox'-gerelateerde multipele congenitale afwijkingen, verstandelijke beperking en autismespectrumstoornis
syndroom van Helsmoortel-Van der Aa
Helsmoortel-Van der Aa-syndroom
ADNP-syndroom
HvdAS
ADNP-gerelateerde verstandelijke beperking en autismespectrumstoornis
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
Helsmoortel-van der Aa syndrome
Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder
A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.
Id766824003
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.0
TermCongenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan
SNOMED CT to Orphanet simple map404448
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified