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 |
3309869018 | A severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3869151000052118 | X-bundet syndrom med lissencefali och onormala könsorgan | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
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 | kongenital anomali | 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 | utvecklingsabnormitet | 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 |
This concept is not in any reference sets