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724091002: Neuroectodermal melanolysosomal disease (disorder)

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
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
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 Active 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 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
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
3388511001000111 Neuroektodermale melanolysosomale Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
947501000172117 maladie d'Elejalde fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
957531000172113 maladie neuroectodermique mélanolysosomale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
947501000172117 maladie d'Elejalde fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
957531000172113 maladie neuroectodermique mélanolysosomale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3388511001000111 Neuroektodermale melanolysosomale Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neuroectodermal melanolysosomal disease Is a Hyperpigmentation of skin true Inferred relationship Existential restriction modifier (core metadata concept)
Neuroectodermal melanolysosomal disease Is a Neurocutaneous syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Neuroectodermal melanolysosomal disease Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Neuroectodermal melanolysosomal disease Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Neuroectodermal melanolysosomal disease Is a Congenital pigmentary skin anomalies true Inferred relationship Existential restriction modifier (core metadata concept)
Neuroectodermal melanolysosomal disease Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Neuroectodermal melanolysosomal disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Neuroectodermal melanolysosomal disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Neuroectodermal melanolysosomal disease Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Neuroectodermal melanolysosomal disease Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Neuroectodermal melanolysosomal disease Associated morphology Congenital hyperpigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 3
Neuroectodermal melanolysosomal disease Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Neuroectodermal melanolysosomal disease Is a Genetic disorder of skin pigmentation (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Neuroectodermal melanolysosomal disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Neuroectodermal melanolysosomal disease Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Neuroectodermal melanolysosomal disease Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Neuroectodermal melanolysosomal disease Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Neuroectodermal melanolysosomal disease Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Neuroectodermal melanolysosomal disease Associated morphology Hyperpigmentation (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Neuroectodermal melanolysosomal disease Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Neuroectodermal melanolysosomal disease Is a Congenital anomaly of nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Neuroectodermal melanolysosomal disease Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Neuroectodermal melanolysosomal disease Associated morphology Neoplasm true Inferred relationship Existential restriction modifier (core metadata concept) 3
Neuroectodermal melanolysosomal disease Associated morphology Neoplasm true Inferred relationship Existential restriction modifier (core metadata concept) 4
Neuroectodermal melanolysosomal disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Neuroectodermal melanolysosomal disease Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Neuroectodermal melanolysosomal disease Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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