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 |
| 3431031014 | Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3431032019 | Microcephalic primordial dwarfism due to ZNF335 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3431033012 | Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3431034018 | Microcephalic primordial dwarfism due to ZNF335 (zinc finger protein 335) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3431035017 | Microcephalic primordial dwarfism Walsh type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5403243010 | Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403244016 | Microcephalic primordial dwarfism due to ZNF335 deficiency is characterised by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | Is a | Microcephalus | false | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | Is a | Primordial dwarfism | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 2 | |
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | Is a | Congenital microencephaly (disorder) | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR