Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3431566018 | Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3431567010 | Laryngeal abductor paralysis with intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3431568017 | Plott syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403269016 | A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403270015 | A rare X-linked syndromic intellectual disability characterised by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Is a | Congenital laryngeal abductor palsy | true | Inferred relationship | Some | ||
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Finding site | Structure of posterior cricoarytenoid muscle | true | Inferred relationship | Some | 1 | |
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 3 | |
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Is a | Paralysis of larynx | true | Inferred relationship | Some | ||
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Interprets | Gross movement of body and limbs | true | Inferred relationship | Some | 2 | |
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 2 | |
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)