Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5036096015 | Pilarowski Bjornsson syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5036097012 | Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5036098019 | Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 13604521000146113 | syndroom van verstandelijke beperking, autisme, spraakapraxie en craniofaciale dysmorfie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13604531000146110 | Pilarowski-Bjornsson-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13604541000146119 | syndroom van verstandelijke beperking, autisme, spraakapraxie en craniofaciale dysmorfie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13604551000146116 | syndroom van verstandelijke handicap, autisme, apraxie van spraak en craniofaciale dysmorfie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5036099010 | A rare syndromic intellectual disability with characteristics of developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 2 | |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR