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. |
| Id | 766824003 | Status | Primitive |
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 |
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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 |
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