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 |
3736330010 | Autosomal recessive cerebral atrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3736331014 | Autosomal recessive cerebral atrophy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3732000013 | A rare genetic neurodegenerative disorder with characteristics of ventriculomegaly and progressive symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments). The disease manifests in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3777366010 | A rare genetic neurodegenerative disorder with characteristics of ventriculomegaly and progressive symmetrical atrophy of the cerebral cortex gray and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments). The disease manifests in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal recessive cerebral atrophy | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Autosomal recessive cerebral atrophy | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 | |
Autosomal recessive cerebral atrophy | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Autosomal recessive cerebral atrophy | Finding site | Cerebrum | true | Inferred relationship | Some | 1 | |
Autosomal recessive cerebral atrophy | Is a | Cerebral atrophy | true | Inferred relationship | Some | ||
Autosomal recessive cerebral atrophy | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets