Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
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 (core metadata concept) | SNOMED CT core |
| 3773932014 | Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3773933016 | Developmental delay, facial dysmorphism syndrome due to MED13L deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 8445711000146119 | syndroom van ontwikkelingsachterstand en congenitale afwijking van aangezicht door MED13L-deficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8445931000146112 | syndroom van ontwikkelingsachterstand en faciale dysmorfie door deficiëntie van 'mediator complex subunit 13-like' (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8445941000146116 | syndroom van ontwikkelingsachterstand en faciale dysmorfie door deficiëntie van 'mediator complex subunit 13-like' | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3773930018 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of varying degrees of intellectual disability, global developmental delay (notably with severe speech and language impairment), muscular hypotonia, and facial dysmorphism (such as broad forehead, bitemporal narrowing, upslanting palpebral fissures, low-set ears, flat nasal bridge, bulbous nose and variably macroglossia). Highly variable additional features include cardiac defects (including persistent foramen ovale, ventricular septal defects, tetralogy of Fallot), coordination problems, seizures, abnormal growth parameters (including microcephaly, low birth and postnatal weight) and brain morphology anomalies (such as ventriculomegaly and myelination defects). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR