Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3702803010 | Developmental delay with autism spectrum disorder and gait instability (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3702804016 | Developmental delay with autism spectrum disorder and gait instability | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3702805015 | A rare genetic neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderate intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behaviour patterns are highly variable and range from sociable and affectionate to autistic behaviour. Caused by homozygous mutation in the HERC2 gene on chromosome 15q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3702806019 | A rare genetic neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderate intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior. Caused by homozygous mutation in the HERC2 gene on chromosome 15q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Developmental delay with autism spectrum disorder and gait instability (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Developmental delay with autism spectrum disorder and gait instability (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Developmental delay with autism spectrum disorder and gait instability (disorder) | Is a | Global developmental delay | true | Inferred relationship | Some | ||
Developmental delay with autism spectrum disorder and gait instability (disorder) | Is a | Autistic disorder of childhood onset | true | Inferred relationship | Some | ||
Developmental delay with autism spectrum disorder and gait instability (disorder) | Occurrence | Childhood | true | Inferred relationship | Some | 1 | |
Developmental delay with autism spectrum disorder and gait instability (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
Developmental delay with autism spectrum disorder and gait instability (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Developmental delay with autism spectrum disorder and gait instability (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Developmental delay with autism spectrum disorder and gait instability (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
Developmental delay with autism spectrum disorder and gait instability (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
Developmental delay with autism spectrum disorder and gait instability (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
Developmental delay with autism spectrum disorder and gait instability (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets