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 |
| 3431493017 | McLeod neuroacanthocytosis syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3431494011 | McLeod neuroacanthocytosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3431495012 | X-linked McLeod syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3431496013 | A form of neuroacanthocytosis with clinical characteristics of a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. The disorder is very rare and a few hundred cases are suspected worldwide. About one third of patients present with chorea indistinguishable from that observed in Huntington disease and most patients will develop chorea during the course of the disease. Caused by mutations of the XK gene (Xp21.1) encoding the XK protein, which includes the Kx erythrocyte antigen. Most pathogenic mutations are nonsense mutations or deletions predicting an absent or shortened XK protein lacking the Kell protein-binding site. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3983771000052117 | McLeods neuroakantocytossyndrom | 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 |
| McLeod neuroacanthocytosis syndrome (disorder) | Associated morphology | Acanthocyte | true | Inferred relationship | Some | 2 | |
| McLeod neuroacanthocytosis syndrome (disorder) | Is a | Hereditary acanthocytosis | true | Inferred relationship | Some | ||
| McLeod neuroacanthocytosis syndrome (disorder) | Is a | Disorder of basal ganglia (disorder) | true | Inferred relationship | Some | ||
| McLeod neuroacanthocytosis syndrome (disorder) | Is a | Extrapyramidal disease | true | Inferred relationship | Some | ||
| McLeod neuroacanthocytosis syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| McLeod neuroacanthocytosis syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| McLeod neuroacanthocytosis syndrome (disorder) | Finding site | Basal ganglion structure (body structure) | true | Inferred relationship | Some | 1 | |
| McLeod neuroacanthocytosis syndrome (disorder) | Finding site | Erythrocyte | true | Inferred relationship | Some | 3 | |
| McLeod neuroacanthocytosis syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 4 | |
| McLeod neuroacanthocytosis syndrome (disorder) | 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
FHIR