pervasieve ontwikkelingsstoornis	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk	verstandelijke beperking
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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
	Syndrome with a wide variety of signs and symptoms, hallmark features are intellectual disability and autism spectrum disorder, distinctive facial features and abnormalities of multiple body systems. Present in some cases are hypotonia, feeding difficulties in infancy, gastroesophageal reflux, vomiting, and constipation. Other features include obesity, seizures, and heart abnormalities. Caused by mutations in the ADNP gene, the protein produced from this gene helps control expression of other genes through chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts development or function of several of the body's tissues and organs, including the brain. The syndrome results from de novo mutations in the ADNP gene and is not inherited.

Id	766824003
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van aangezicht
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.0
Term	Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan

SNOMED CT to Orphanet simple map

404448

SNOMED CT to ICD-10 extended map

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified