773555005: Severe neurodegenerative syndrome with lipodystrophy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \Disease\Genetic disease\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Severe neurodegenerative syndrome with lipodystrophy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe neurodegenerative syndrome with lipodystrophy
• \Disease\Degenerative disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \Disease\Disorder of connective tissue\Connective tissue hereditary disorder\Severe neurodegenerative syndrome with lipodystrophy
• \Disease\Disorder of connective tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Severe neurodegenerative syndrome with lipodystrophy
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3724071018	Severe neurodegenerative syndrome due to BSCL2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3724072013	Severe neurodegenerative syndrome due to BSCL2, seipin lipid droplet biogenesis associated deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3724073015	Severe neurodegenerative syndrome with lipodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724074014	Severe neurodegenerative syndrome with lipodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724077019	A rare genetic neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tetraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated. Caused by homozygous or compound heterozygous mutation in the BSCL2 gene on chromosome 11q13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724078012	A rare genetic neurodegenerative disorder characterised by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tetraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridaemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated. Caused by homozygous or compound heterozygous mutation in the BSCL2 gene on chromosome 11q13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724071018	Severe neurodegenerative syndrome due to BSCL2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3724072013	Severe neurodegenerative syndrome due to BSCL2, seipin lipid droplet biogenesis associated deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3724073015	Severe neurodegenerative syndrome with lipodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724074014	Severe neurodegenerative syndrome with lipodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724077019	A rare genetic neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tetraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated. Caused by homozygous or compound heterozygous mutation in the BSCL2 gene on chromosome 11q13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724078012	A rare genetic neurodegenerative disorder characterised by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tetraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridaemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated. Caused by homozygous or compound heterozygous mutation in the BSCL2 gene on chromosome 11q13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3382921001000111	Schweres Neurodegeneratives Syndrom mit Lipodystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
950351000172110	syndrome neurodégénératif sévère par déficit en BSCL2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1008561000172119	syndrome neurodégénératif sévère avec lipodystrophie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
950351000172110	syndrome neurodégénératif sévère par déficit en BSCL2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1008561000172119	syndrome neurodégénératif sévère avec lipodystrophie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3382921001000111	Schweres Neurodegeneratives Syndrom mit Lipodystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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