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 |
3701526013 | X-linked cerebral, cerebellar, coloboma syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3701527016 | X-linked intellectual disability Kroes type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3701528014 | X-linked cerebral, cerebellar, coloboma syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3701258016 | A rare genetic syndrome with cerebellar malformation as a major feature. Characteristics included cerebellar vermis hypo or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, and ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4289131000172112 | X-gebonden mentale retardatie type Kroes | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
4289141000172117 | X-gebonden cerebraal-cerebellair-coloboomsyndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Is a | Congenital cerebellar hypoplasia | true | Inferred relationship | Some | ||
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Is a | Congenital ocular coloboma (disorder) | true | Inferred relationship | Some | ||
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Finding site | Eye structure | true | Inferred relationship | Some | 1 | |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 3 | |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 3 | |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Is a | Agenesis of corpus callosum | true | Inferred relationship | Some | ||
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Associated morphology | Agenesis (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Finding site | Entire corpus callosum | true | Inferred relationship | Some | 2 | |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets