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 |
3309867016 | X-linked lissencephaly with abnormal genitalia syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3309868014 | X-linked lissencephaly with ambiguous genitalia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3309870017 | X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3309871018 | X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401579011 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401580014 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioural abnormalities, and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked lissencephaly with abnormal genitalia syndrome | Is a | Agenesis of corpus callosum | true | Inferred relationship | Some | ||
X-linked lissencephaly with abnormal genitalia syndrome | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked lissencephaly with abnormal genitalia syndrome | Is a | Lissencephaly | true | Inferred relationship | Some | ||
X-linked lissencephaly with abnormal genitalia syndrome | Is a | Congenital malformation of genital organs (disorder) | true | Inferred relationship | Some | ||
X-linked lissencephaly with abnormal genitalia syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
X-linked lissencephaly with abnormal genitalia syndrome | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
X-linked lissencephaly with abnormal genitalia syndrome | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
X-linked lissencephaly with abnormal genitalia syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
X-linked lissencephaly with abnormal genitalia syndrome | Finding site | Entire corpus callosum | false | Inferred relationship | Some | 3 | |
X-linked lissencephaly with abnormal genitalia syndrome | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 4 | |
X-linked lissencephaly with abnormal genitalia syndrome | Finding site | Brain structure | false | Inferred relationship | Some | 4 | |
X-linked lissencephaly with abnormal genitalia syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 5 | |
X-linked lissencephaly with abnormal genitalia syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
X-linked lissencephaly with abnormal genitalia syndrome | Finding site | Genital structure | false | Inferred relationship | Some | 5 | |
X-linked lissencephaly with abnormal genitalia syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
X-linked lissencephaly with abnormal genitalia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
X-linked lissencephaly with abnormal genitalia syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
X-linked lissencephaly with abnormal genitalia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
X-linked lissencephaly with abnormal genitalia syndrome | Finding site | Genital structure | true | Inferred relationship | Some | 1 | |
X-linked lissencephaly with abnormal genitalia syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
X-linked lissencephaly with abnormal genitalia syndrome | Finding site | Entire corpus callosum | true | Inferred relationship | Some | 2 | |
X-linked lissencephaly with abnormal genitalia syndrome | Associated morphology | Agenesis (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
X-linked lissencephaly with abnormal genitalia syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
X-linked lissencephaly with abnormal genitalia syndrome | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)