Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3662756012 | Helsmoortel-van der Aa syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3662757015 | ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3662758013 | Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3662759017 | Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3662760010 | 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, gastrooesophageal 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 remodelling. 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3662761014 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Is a | Autistic disorder | false | Inferred relationship | Some | ||
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Is a | Pervasive developmental disorder (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR