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 |
| 762281000241119 | syndrome de calcification du système nerveux central-surdité-acidose tubulaire-anémie (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 909711000172112 | syndrome de calcification du système nerveux central-surdité-acidose tubulaire-anémie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 932161000172111 | syndrome de Yoshimura-Takeshita | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 | Active | 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 | 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) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 3 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 1 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | est un(e) (attribut) | maladie dégénérative du système nerveux central | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | est un(e) (attribut) | Calcinosis | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | est un(e) (attribut) | Hemoglobin low | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | est un(e) (attribut) | numération des globules rouges basse (constatation) | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | est un(e) (attribut) | Disorder of the central nervous system (disorder) | false | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | est un(e) (attribut) | calcification extrasquelettique | false | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | est un(e) (attribut) | anémie | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | est un(e) (attribut) | lésion neurologique | true | Inferred relationship | Some | ||
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | localisation d'une constatation (attribut) | oreille | false | Inferred relationship | Some | 1 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 6 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 4 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | morphologie associée (attribut) | Pathologic calcification, calcified structure (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | localisation d'une constatation (attribut) | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 5 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | interprète (attribut) | Measurement of total haemoglobin concentration | true | Inferred relationship | Some | 6 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | interprète (attribut) | Red blood cell count | true | Inferred relationship | Some | 4 | |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR