Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5036032016 | Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5036033014 | Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5036034015 | SYT1-related neurodevelopmental disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5036035019 | Synaptotagmin 1-related neurodevelopmental disorder | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5036036018 | Baker Gordon syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5036037010 | A rare genetic neurological disorder with characteristics of infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioural abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5036038017 | A rare genetic neurological disorder with characteristics of infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of visual system | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | est un(e) (attribut) | Global developmental delay | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | est un(e) (attribut) | Decreased muscle tone (finding) | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | est un(e) (attribut) | Movement disorder | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | est un(e) (attribut) | affection d'un muscle squelettique | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | interprète (attribut) | Movement (observable entity) | true | Inferred relationship | Some | 5 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 3 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | localisation d'une constatation (attribut) | système nerveux | true | Inferred relationship | Some | 4 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | interprète (attribut) | Muscle tone | true | Inferred relationship | Some | 2 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | a pour interprétation (attribut) | Decreased | true | Inferred relationship | Some | 2 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | localisation d'une constatation (attribut) | Structure of visual system (body structure) | true | Inferred relationship | Some | 1 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR