Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5415437019 | Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5415438012 | Diets Jongmans syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5415439016 | KDM3B-related intellectual disability, facial dysmorphism, short stature syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5415440019 | Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5415441015 | A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild or moderate intellectual disability, developmental delay, short stature and facial dysmorphism (long ears, prominent nasal tip, low columella, thin upper lip, broad mouth and prominent chin) due to KDM3B mutations. Neonatal feeding difficulties, childhood hypotonia, and behavior problems were also reported in some patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5415442010 | A rare multiple congenital anomalies/dysmorphic syndrome characterised by mild or moderate intellectual disability, developmental delay, short stature and facial dysmorphism (long ears, prominent nasal tip, low columella, thin upper lip, broad mouth and prominent chin) due to KDM3B mutations. Neonatal feeding difficulties, childhood hypotonia, and behaviour problems were also reported in some patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR