Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5449746010 | DHX30-related neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5449747018 | Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5449748011 | Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5449749015 | DHX30-related neurodevelopmental disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5449750015 | A rare syndromic intellectual disability without congenital anomalies/specific dysmorphic phenotype characterised by delayed psychomotor development, severe intellectual disability, delayed or absent speech development, hypotonia, ataxic gait and feeding difficulties. Clinical symptoms are evident from early infancy. Majority of the patients also present with behavioural abnormalities (including autistic features, aggressive behaviour, low frustration tolerance, and stereotypies such as hand-flapping). Additional clinical features may include inability to walk, seizures, hearing loss, sleep abnormalities, joint hyperlaxity. Nonspecific dysmorphic facial features (small head, strabismus, epicanthal folds, synophrys, high palate, low-set ears, orofacial hypotonia, full eyelids, and eversion of the lower lip) may also be present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5449751016 | A rare syndromic intellectual disability without congenital anomalies/specific dysmorphic phenotype characterized by delayed psychomotor development, severe intellectual disability, delayed or absent speech development, hypotonia, ataxic gait and feeding difficulties. Clinical symptoms are evident from early infancy. Majority of the patients also present with behavioral abnormalities (including autistic features, aggressive behavior, low frustration tolerance, and stereotypies such as hand-flapping). Additional clinical features may include inability to walk, seizures, hearing loss, sleep abnormalities, joint hyperlaxity. Nonspecific dysmorphic facial features (small head, strabismus, epicanthal folds, synophrys, high palate, low-set ears, orofacial hypotonia, full eyelids, and eversion of the lower lip) may also be present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | Is a | Disorder of nervous system (disorder) | true | Inferred relationship | Some | ||
| Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | Is a | Genetic intellectual disability | true | Inferred relationship | Some | ||
| Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | Is a | Ataxia | true | Inferred relationship | Some | ||
| Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | Is a | Speech delay | true | Inferred relationship | Some | ||
| Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | Is a | Severe intellectual disability (disorder) | true | Inferred relationship | Some | ||
| Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | Is a | Feeding problem | true | Inferred relationship | Some | ||
| Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | Interprets | Eating feeding / drinking observable | true | Inferred relationship | Some | 6 | |
| Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 4 | |
| Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 1 | |
| Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 1 | |
| Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 2 | |
| Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | Interprets | Ability to perform functions related to communication | true | Inferred relationship | Some | 3 | |
| Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 3 | |
| Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) | Is a | Neurodevelopmental delay (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR