Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4634841013 | Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4634842018 | TELO2-related intellectual disability, neurodevelopmental disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4634843011 | Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4634844017 | You Hoover Fong syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4634845016 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder and impaired balance. Variable manifestations include hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | est un(e) (attribut) | Global developmental delay | true | Inferred relationship | Some | ||
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 3 | |
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 1 | |
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 1 | |
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | est un(e) (attribut) | Congenital anomaly of central nervous system | true | Inferred relationship | Some | ||
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | localisation d'une constatation (attribut) | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR