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 |
| 3430550013 | 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 to with this syndrome. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3430551012 | 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 to with this syndrome. | en | Definition | Inactive | 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 | Inactive | 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 | Inactive | 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 |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 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. | Is a | Hyperpigmentation of skin | true | Inferred relationship | Some | ||
| 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. | Is a | Neurocutaneous syndrome | true | Inferred relationship | Some | ||
| 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. | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| 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. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| 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. | Is a | Congenital pigmentary skin anomalies | true | Inferred relationship | Some | ||
| 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. | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| 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. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 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. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| 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. | Associated morphology | dysgenese | false | Inferred relationship | Some | 2 | |
| 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. | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 2 | |
| 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. | Associated morphology | kongenit hyperpigmentering | false | Inferred relationship | Some | 3 | |
| 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. | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
| 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. | Is a | Genetic disorder of skin pigmentation (disorder) | true | Inferred relationship | Some | ||
| 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. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 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. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| 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. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| 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. | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| 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. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
| 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. | Associated morphology | Hyperpigmentation | true | Inferred relationship | Some | 1 | |
| 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. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| 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. | Is a | Congenital anomaly of nervous system | true | Inferred relationship | Some | ||
| 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. | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 3 | |
| 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. | Associated morphology | Neoplasm | true | Inferred relationship | Some | 3 | |
| 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. | Associated morphology | Neoplasm | true | Inferred relationship | Some | 4 | |
| 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. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| 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. | Finding site | Skin structure | true | Inferred relationship | Some | 4 | |
| 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. | 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)
FHIR