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 |
| 5277861019 | Syndrome that is characterized by silvery to leaden hair, bronze skin color in sun-exposed areas and severe neurological impairment. The syndrome was first described in 1979 in three consanguineous families. It is either congenital or develops during childhood (seizures, severe hypotonia and intellectual deficit). There is no impairment of the immune system and a wide spectrum of ophthalmologic abnormalities has been described. Molecular data has shed light on the complex relationship that exists between this syndrome and Griscelli syndrome. Mutations in the myosin Va gene (MYOVA) result in the so-called Griscelli syndrome type 1. MYOVA encodes myosin Va, an actin-based motor protein important for the intracellular transport of organelles in melanocyte and neuronal cells. It is very likely that Griscelli syndrome type 1 corresponds with this syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5277862014 | Syndrome that is characterised by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment. The syndrome was first described in 1979 in three consanguineous families. It is either congenital or develops during childhood (seizures, severe hypotonia and intellectual deficit). There is no impairment of the immune system and a wide spectrum of ophthalmologic abnormalities has been described. Molecular data has shed light on the complex relationship that exists between this syndrome and Griscelli syndrome. Mutations in the myosin Va gene (MYOVA) result in the so-called Griscelli syndrome type 1. MYOVA encodes myosin Va, an actin-based motor protein important for the intracellular transport of organelles in melanocyte and neuronal cells. It is very likely that Griscelli syndrome type 1 corresponds with this syndrome. | 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 | dysgenese | 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 | kongenit hyperpigmentering | 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 |
This concept is not in any reference sets
FHIR