Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3756553016 | Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756554010 | Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756555011 | A rare genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy and bilateral thalamic and basal ganglia lesions. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3756556012 | A rare genetic disorder of thiamine metabolism and transport characterised by infantile spasms progressing to symptomatic generalised or partial seizures, severe global developmental delay, progressive brain atrophy and bilateral thalamic and basal ganglia lesions. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) | Is a | Metabolic disorder of transport | true | Inferred relationship | Some | ||
| Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR