Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3302463011 | Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3302464017 | Microcephalus co-occurrent with cervical spine fusion anomaly | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3302465016 | Microcephaly with cervical spine fusion anomaly | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5400905015 | Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400906019 | Microcephaly-cervical spine fusion anomalies syndrome is characterised by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Is a | Microcephalus | false | Inferred relationship | Some | ||
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Is a | Congenital fusion of spine | true | Inferred relationship | Some | ||
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Is a | Congenital anomaly of cervical vertebra | true | Inferred relationship | Some | ||
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Is a | Lesion of neck | true | Inferred relationship | Some | ||
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 2 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 2 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 3 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Finding site | Bone structure of cervical vertebra | false | Inferred relationship | Some | 3 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Finding site | Bone structure of cervical vertebra | true | Inferred relationship | Some | 1 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 1 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 2 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 4 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Associated morphology | Abnormally fused structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)