Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3727860014 | Xia Gibbs syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3727861013 | AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3727862018 | AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3727864017 | AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 1848501000172113 | syndrome de déficience intellectuelle, apnée obstructive du sommeil et dysmorphie modérée associé à la mutation de AHDC1 (AT-hook DNA binding motif containing 1) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 1848511000172111 | syndrome de Xia-Gibbs | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 1376551000172110 | syndroom van 'AT-hook DNA binding motif containing 1'-gerelateerde verstandelijke beperking, obstructieve slaapapneu en lichte dysmorfie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Interprets | Respiration observable | true | Inferred relationship | Some | 3 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Associated morphology | Obstruction | true | Inferred relationship | Some | 1 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Is a | Obstructive sleep apnea syndrome | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Finding site | Structure of respiratory system (body structure) | false | Inferred relationship | Some | 3 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Is a | Hereditary disorder by system | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Finding site | Airway structure | true | Inferred relationship | Some | 1 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Has interpretation | Absent | true | Inferred relationship | Some | 3 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR