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 |
| 3706358015 | Developmental and speech delay due to SRY-box 5 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3706359011 | Developmental and speech delay due to SOX5 (SRY-box 5) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3706360018 | Developmental and speech delay due to SRY-box 5 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3706361019 | Developmental and speech delay due to SOX5 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3706362014 | A rare genetic syndromic intellectual disability characterised by mild to severe global developmental delay, intellectual disability and behavioural abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3706363016 | A rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Developmental and speech delay due to SRY-box 5 deficiency (disorder) | est un(e) (attribut) | Global developmental delay | true | Inferred relationship | Some | ||
| Developmental and speech delay due to SRY-box 5 deficiency (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Developmental and speech delay due to SRY-box 5 deficiency (disorder) | est un(e) (attribut) | retard de langage | true | Inferred relationship | Some | ||
| Developmental and speech delay due to SRY-box 5 deficiency (disorder) | a pour interprétation (attribut) | anormal | true | Inferred relationship | Some | 2 | |
| Developmental and speech delay due to SRY-box 5 deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Developmental and speech delay due to SRY-box 5 deficiency (disorder) | interprète (attribut) | capacité d'exécuter les fonctions reliées à la communication | true | Inferred relationship | Some | 2 | |
| Developmental and speech delay due to SRY-box 5 deficiency (disorder) | interprète (attribut) | entité observable de la parole et du langage | false | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR