Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5146300011 | Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5146301010 | Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5146354013 | Arboleda Tham syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5146375017 | A rare genetic neurodevelopmental disorder with characteristics of global developmental delay and variable degrees of intellectual disability with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described. The disorder is caused by heterozygous pathogenic variants affecting the KAT6A gene (8p11.21) which encodes for a lysine (K) acetyltransferase 6A that forms part of a histone acetyltransferase complex regulating transcriptional activity and gene expression. The disorder is autosomal dominant, most cases are sporadic due to de novo variants. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Finding site | Heart structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR