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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | interprète (attribut) | entité observable de la respiration | 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 | morphologie associée (attribut) | obstruction | true | Inferred relationship | Some | 1 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 2 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | est un(e) (attribut) | Obstructive sleep apnea syndrome | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | localisation d'une constatation (attribut) | structure de l'appareil respiratoire | false | Inferred relationship | Some | 3 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | est un(e) (attribut) | Hereditary disorder by system | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | localisation d'une constatation (attribut) | structure des voies aériennes | true | Inferred relationship | Some | 1 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | a pour interprétation (attribut) | Absent | true | Inferred relationship | Some | 3 | |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR