724091002: Neuroectodermal melanolysosomal disease (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neuroectodermal melanolysosomal disease
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neuroectodermal melanolysosomal disease
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease

\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Mass of body structure\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Mass of body structure\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Mass of body structure\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease

\Neurological lesion\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease

\General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease

\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Neuroectodermal melanolysosomal disease
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neuroectodermal melanolysosomal disease
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neuroectodermal melanolysosomal disease
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Neuroectodermal melanolysosomal disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Neuroectodermal melanolysosomal disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Neuroectodermal melanolysosomal disease
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Neuroectodermal melanolysosomal disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neuroectodermal melanolysosomal disease
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neuroectodermal melanolysosomal disease
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of nervous system\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Disease\Degenerative disorder\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Neurological disorder\Neoplasm of nervous system\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Neuroectodermal melanolysosomal disease
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Neuroectodermal melanolysosomal disease
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Neuroectodermal melanolysosomal disease
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Disease\Congenital disease\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neuroectodermal melanolysosomal disease
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neuroectodermal melanolysosomal disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neuroectodermal melanolysosomal disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neuroectodermal melanolysosomal disease
\Disease\Developmental disorder\Developmental hereditary disorder\Neuroectodermal melanolysosomal disease
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Neuroectodermal melanolysosomal disease
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Neuroectodermal melanolysosomal disease
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Neuroectodermal melanolysosomal disease

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3430548017 Neuroectodermal melanolysosomal disease en Synonym Active Case insensitive SNOMED CT core

3430549013 Elejalde disease en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neuroectodermal melanolysosomal disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Neuroectodermal melanolysosomal disease	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Neuroectodermal melanolysosomal disease	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Neuroectodermal melanolysosomal disease	Finding site	Skin structure	true	Inferred relationship	Some	1
Neuroectodermal melanolysosomal disease	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Neuroectodermal melanolysosomal disease	Associated morphology	Hyperpigmentation	true	Inferred relationship	Some	1
Neuroectodermal melanolysosomal disease	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Neuroectodermal melanolysosomal disease	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Some
Neuroectodermal melanolysosomal disease	Finding site	Structure of nervous system	true	Inferred relationship	Some	3
Neuroectodermal melanolysosomal disease	Associated morphology	Neoplasm	true	Inferred relationship	Some	3
Neuroectodermal melanolysosomal disease	Associated morphology	Neoplasm	true	Inferred relationship	Some	4
Neuroectodermal melanolysosomal disease	Occurrence	Congenital	true	Inferred relationship	Some	4
Neuroectodermal melanolysosomal disease	Finding site	Skin structure	true	Inferred relationship	Some	4
Neuroectodermal melanolysosomal disease	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Neuroectodermal melanolysosomal disease	Is a	Hyperpigmentation of skin	true	Inferred relationship	Some
Neuroectodermal melanolysosomal disease	Is a	Neurocutaneous syndrome	true	Inferred relationship	Some
Neuroectodermal melanolysosomal disease	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Neuroectodermal melanolysosomal disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Neuroectodermal melanolysosomal disease	Is a	Congenital pigmentary skin anomalies	true	Inferred relationship	Some
Neuroectodermal melanolysosomal disease	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Neuroectodermal melanolysosomal disease	Occurrence	Congenital	true	Inferred relationship	Some	2
Neuroectodermal melanolysosomal disease	Occurrence	Congenital	true	Inferred relationship	Some	3
Neuroectodermal melanolysosomal disease	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Neuroectodermal melanolysosomal disease	Finding site	Structure of nervous system	true	Inferred relationship	Some	2
Neuroectodermal melanolysosomal disease	Associated morphology	Congenital hyperpigmentation	false	Inferred relationship	Some	3
Neuroectodermal melanolysosomal disease	Finding site	Skin structure	false	Inferred relationship	Some	3
Neuroectodermal melanolysosomal disease	Is a	Genetic disorder of skin pigmentation	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3430547010	Neuroectodermal melanolysosomal disease (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3430548017	Neuroectodermal melanolysosomal disease	en	Synonym	Active	Case insensitive	SNOMED CT core
3430549013	Elejalde disease	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core