Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5308222010 | Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5308223017 | MYT1L-related Prader-Willi-like syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5308224011 | MYT1L-related developmental delay, intellectual disability, obesity syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5308225012 | Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5308226013 | A rare neurodevelopmental syndrome characterised by developmental delay, intellectual disability of varying severity and weight disorders (overweight/obesity and eating behaviour disorders including hyperphagia, tachyphagia, food impulsiveness and a feeling of permanent hunger). Additional clinical features include learning difficulties (may be combined with dysphasia, dyspraxia, dyscalculia, dysgraphia), severe language delay, behavioural disorders (stereotypies, impulsiveness or intolerance to frustration, self or hetero aggression, autism spectrum disorder) and non-specific dysmorphism. Epilepsy and ophthalmologic abnormalities can also be observed. Endocrine abnormalities are rarely associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5308227016 | A rare neurodevelopmental syndrome characterized by developmental delay, intellectual disability of varying severity and weight disorders (overweight/obesity and eating behavior disorders including hyperphagia, tachyphagia, food impulsiveness and a feeling of permanent hunger). Additional clinical features include learning difficulties (may be combined with dysphasia, dyspraxia, dyscalculia, dysgraphia), severe language delay, behavioral disorders (stereotypies, impulsiveness or intolerance to frustration, self or hetero aggression, autism spectrum disorder) and non-specific dysmorphism. Epilepsy and ophthalmologic abnormalities can also be observed. Endocrine abnormalities are rarely associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) | Is a | Obesity (disorder) | true | Inferred relationship | Some | ||
| Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 1 | |
| Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 1 | |
| Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 2 | |
| Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) | Interprets | Body weight measure | true | Inferred relationship | Some | 3 | |
| Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) | Has interpretation | Above reference range | 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