Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Oct 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5483253013 | Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5483254019 | BCL11B-related neurodevelopmental disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5483255018 | Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5483256017 | A rare genetic syndromic neurodevelopmental disorder characterized by intellectual disability, speech and motor delay, and distinctive craniofacial features. Immune involvement is common, though only some individuals develop immunodeficiency or autoimmunity. Additional features may include craniosynostosis, seizures, brain MRI abnormalities, and refractive errors. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5483257014 | A rare genetic syndromic neurodevelopmental disorder characterised by intellectual disability, speech and motor delay, and distinctive craniofacial features. Immune involvement is common, though only some individuals develop immunodeficiency or autoimmunity. Additional features may include craniosynostosis, seizures, brain MRI abnormalities, and refractive errors. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome (disorder) | Is a | Neurodevelopmental delay (disorder) | true | Inferred relationship | Some | ||
| Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome (disorder) | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 2 | |
| Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome (disorder) | Is a | Genetic intellectual disability | true | Inferred relationship | Some | ||
| Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR