Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3315139012 | X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3315140014 | X-linked intellectual disability with cubitus valgus and dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3315141013 | This syndrome has characteristics of moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3777421017 | This syndrome has characteristics of moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple naevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Is a | Congenital cubitus valgus | true | Inferred relationship | Some | ||
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Is a | Congenital malrotation of limb | false | Inferred relationship | Some | ||
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Is a | Congenital anomaly of joint | true | Inferred relationship | Some | ||
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Associated morphology | Congenital valgus deformity | false | Inferred relationship | Some | 2 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Finding site | Elbow joint structure | false | Inferred relationship | Some | 2 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 3 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Finding site | Elbow joint structure | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Associated morphology | Valgus deformity | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Is a | Elbow joint deformity | true | Inferred relationship | Some | ||
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Is a | Arthropathy of elbow (disorder) | true | Inferred relationship | Some | ||
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Is a | Congenital deformity of musculoskeletal system (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets