Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3773931019 | Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 3773932014 | Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3773933016 | Developmental delay, facial dysmorphism syndrome due to MED13L deficiency | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | Is a | Global developmental delay | true | Inferred relationship | Existential restriction modifier | ||
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 2 | |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 2 | |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 3 | |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR