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 |
| 3451459014 | Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3451460016 | Central nervous system calcification, deafness, tubular acidosis, anemia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3451461017 | Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3451462012 | Yoshimura Takeshita syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3451463019 | This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3451464013 | This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403571015 | A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403572010 | A rare genetic neurological disorder characterised by early-onset progressive leucoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anaemia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Disorder of the central nervous system (disorder) | false | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Extraskeletal calcification | false | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Anemia | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Neurological lesion | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 1 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 6 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Associated morphology | Pathologic calcification | true | Inferred relationship | Some | 5 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Finding site | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 5 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Interprets | Measurement of total haemoglobin concentration | true | Inferred relationship | Some | 6 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Interprets | Red blood cell count | true | Inferred relationship | Some | 4 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Intellectual disability | false | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 1 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Degenerative disease of the central nervous system | false | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Calcinosis | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Hemoglobin below reference range (finding) | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Red blood cell count below reference range | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 7 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 8 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 8 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Genetic intellectual disability | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Auditory system hereditary disorder | false | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Hereditary disorder of cellular element of blood (disorder) | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Is a | Hereditary hearing loss | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR