| Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) | | 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. | | syndroom van 'activity dependent neuroprotector homeobox'-gerelateerde multipele congenitale afwijkingen, verstandelijke beperking en autismespectrumstoornis | | Helsmoortel-Van der Aa-syndroom
ADNP-syndroom
HvdAS
ADNP-gerelateerde verstandelijke beperking en autismespectrumstoornis
syndroom van Helsmoortel-Van der Aa
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| | Id | 766824003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | 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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