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 |
3430547010 | Neuroectodermal melanolysosomal disease (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3430548017 | Neuroectodermal melanolysosomal disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3430549013 | Elejalde disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403219012 | A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403220018 | A rare genetic neurological disease characterised by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Neuroectodermal melanolysosomal disease (disorder) | Is a | Hyperpigmentation of skin | true | Inferred relationship | Some | ||
Neuroectodermal melanolysosomal disease (disorder) | Is a | Neurocutaneous syndrome | true | Inferred relationship | Some | ||
Neuroectodermal melanolysosomal disease (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Neuroectodermal melanolysosomal disease (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Neuroectodermal melanolysosomal disease (disorder) | Is a | Congenital pigmentary skin anomalies | true | Inferred relationship | Some | ||
Neuroectodermal melanolysosomal disease (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Neuroectodermal melanolysosomal disease (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Neuroectodermal melanolysosomal disease (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Neuroectodermal melanolysosomal disease (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 2 | |
Neuroectodermal melanolysosomal disease (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 2 | |
Neuroectodermal melanolysosomal disease (disorder) | Associated morphology | Congenital hyperpigmentation | false | Inferred relationship | Some | 3 | |
Neuroectodermal melanolysosomal disease (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
Neuroectodermal melanolysosomal disease (disorder) | Is a | Genetic disorder of skin pigmentation (disorder) | true | Inferred relationship | Some | ||
Neuroectodermal melanolysosomal disease (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Neuroectodermal melanolysosomal disease (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Neuroectodermal melanolysosomal disease (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Neuroectodermal melanolysosomal disease (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
Neuroectodermal melanolysosomal disease (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Neuroectodermal melanolysosomal disease (disorder) | Associated morphology | Hyperpigmentation | true | Inferred relationship | Some | 1 | |
Neuroectodermal melanolysosomal disease (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Neuroectodermal melanolysosomal disease (disorder) | Is a | Congenital anomaly of nervous system | true | Inferred relationship | Some | ||
Neuroectodermal melanolysosomal disease (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 3 | |
Neuroectodermal melanolysosomal disease (disorder) | Associated morphology | Neoplasm | true | Inferred relationship | Some | 3 | |
Neuroectodermal melanolysosomal disease (disorder) | Associated morphology | Neoplasm | true | Inferred relationship | Some | 4 | |
Neuroectodermal melanolysosomal disease (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Neuroectodermal melanolysosomal disease (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 4 | |
Neuroectodermal melanolysosomal disease (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)