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 |
5404935016 | Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404936015 | Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 |
5404935016 | Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404936015 | Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3410371001000118 | Entwicklungsverzögerung mit Autismus-Spektrum-Störung und Gang-Instabilität | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
882281000172114 | retard de développement avec trouble du spectre de l'autisme et démarche instable | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
882281000172114 | retard de développement avec trouble du spectre de l'autisme et démarche instable | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3410371001000118 | Entwicklungsverzögerung mit Autismus-Spektrum-Störung und Gang-Instabilität | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated 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. | Is a | Intelligenzminderung | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated 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. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated 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. | Is a | Global developmental delay | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated 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. | Is a | Autistic disorder of childhood onset | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated 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. | Occurrence | Childhood | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated 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. | Pathological process (attribute) | Pathological developmental process (qualifier value) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated 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. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated 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. | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated 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. | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated 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. | Has interpretation | Impaired (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated 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. | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated 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. | Has interpretation | Impaired (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)