Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3727859016 | AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3727860014 | Xia Gibbs syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3727861013 | AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3727862018 | AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3727863011 | AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
| 3727864017 | AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3727865016 | A rare syndromic intellectual disability characterised by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnoea, mild dysmorphic facial features and behavioural abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3727866015 | A rare syndromic intellectual disability characterized by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Interprets | Respiration observable | true | Inferred relationship | Some | 3 | |
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Associated morphology | Obstruction | true | Inferred relationship | Some | 1 | |
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Is a | Obstructive sleep apnoea | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Finding site | Structure of respiratory system | false | Inferred relationship | Some | 3 | |
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Is a | Hereditary disorder by system | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Finding site | Airway structure | true | Inferred relationship | Some | 1 | |
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Has interpretation | Absent | true | Inferred relationship | Some | 3 | |
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 4 | |
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 5 | |
| AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Respiratory finding reference set
Problem/Diagnosis reference set
FHIR