773555005: ernstig neurodegeneratief syndroom met lipodystrofie (aandoening)

SNOMED CT Concept\klinische bevinding (bevinding)\...

\algemene bevinding betreffende weke delen\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\aandoening van subcutaan vetweefsel\Lipodystrophy\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy
\algemene bevinding betreffende weke delen\Disorder of soft tissue\aandoening van huid en/of subcutis (aandoening)\Disorder of subcutaneous tissue (disorder)\aandoening van subcutaan vetweefsel\Lipodystrophy\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy

\Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\aandoening van subcutaan vetweefsel\Lipodystrophy\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Severe neurodegenerative syndrome with lipodystrophy
\Integumentary system finding\Disorder of integument\aandoening van huid en/of subcutis (aandoening)\Disorder of subcutaneous tissue (disorder)\aandoening van subcutaan vetweefsel\Lipodystrophy\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy

\Disease\genetische aandoening\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy
\Disease\genetische aandoening\hereditaire aandoening\Hereditary disorder by system\Hereditary disorder of nervous system\Severe neurodegenerative syndrome with lipodystrophy
\Disease\genetische aandoening\hereditaire aandoening\Hereditary disorder by system\Hereditary disorder of the integument\Severe neurodegenerative syndrome with lipodystrophy
\Disease\genetische aandoening\hereditaire aandoening\Connective tissue hereditary disorder\Severe neurodegenerative syndrome with lipodystrophy
\Disease\genetische aandoening\hereditaire aandoening\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe neurodegenerative syndrome with lipodystrophy
\Disease\degeneratieve aandoening\Lipodystrophy\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy
\Disease\ziekte van structuur van tractus\Hereditary disorder by system\Hereditary disorder of nervous system\Severe neurodegenerative syndrome with lipodystrophy
\Disease\ziekte van structuur van tractus\Hereditary disorder by system\Hereditary disorder of the integument\Severe neurodegenerative syndrome with lipodystrophy
\Disease\ziekte van structuur van tractus\Disorder of integument\Hereditary disorder of the integument\Severe neurodegenerative syndrome with lipodystrophy
\Disease\ziekte van structuur van tractus\Disorder of integument\aandoening van huid en/of subcutis (aandoening)\Disorder of subcutaneous tissue (disorder)\aandoening van subcutaan vetweefsel\Lipodystrophy\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Severe neurodegenerative syndrome with lipodystrophy
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Chronic nervous system disorder\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Disorder of connective tissue (disorder)\aandoening van subcutaan vetweefsel\Lipodystrophy\Genetic lipodystrophy (disorder)\Severe neurodegenerative syndrome with lipodystrophy
\Disease\chronische ziekte (aandoening)\Chronic nervous system disorder\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Disorder of soft tissue\aandoening van huid en/of subcutis (aandoening)\Disorder of subcutaneous tissue (disorder)\aandoening van subcutaan vetweefsel\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: module van internationale editie (metadata)

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
3724071018	Severe neurodegenerative syndrome due to BSCL2 deficiency	en	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
3724072013	Severe neurodegenerative syndrome due to BSCL2, seipin lipid droplet biogenesis associated deficiency	en	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
3724073015	Severe neurodegenerative syndrome with lipodystrophy	en	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
3724074014	Severe neurodegenerative syndrome with lipodystrophy (disorder)	en	volledig gespecificeerde naam (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
6730301000146114	ernstig neurodegeneratief syndroom met lipodystrofie	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
6730311000146111	ernstig neurodegeneratief syndroom met lipodystrofie (aandoening)	nl	volledig gespecificeerde naam (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
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	tekstdefinitie (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Amerikaans-Engelse taalreferentieset (metadata): voorkeursterm
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	tekstdefinitie (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe neurodegenerative syndrome with lipodystrophy	Is a	Connective tissue hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
Severe neurodegenerative syndrome with lipodystrophy	Is a	Autosomal recessive hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
Severe neurodegenerative syndrome with lipodystrophy	Clinical course	Progressive	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
Severe neurodegenerative syndrome with lipodystrophy	Is a	Hereditary disorder of the integument	true	geïnfereerde relatie	existentiële restrictie (metadata)
Severe neurodegenerative syndrome with lipodystrophy	Is a	Hereditary disorder of nervous system	true	geïnfereerde relatie	existentiële restrictie (metadata)
Severe neurodegenerative syndrome with lipodystrophy	Associated morphology	dystrofie	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Severe neurodegenerative syndrome with lipodystrophy	Associated morphology	degeneratie (afwijkende morfologie)	false	geïnfereerde relatie	existentiële restrictie (metadata)	2
Severe neurodegenerative syndrome with lipodystrophy	locatie van bevinding	Subcutaneous fatty tissue	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Severe neurodegenerative syndrome with lipodystrophy	Is a	Chronic nervous system disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
Severe neurodegenerative syndrome with lipodystrophy	Is a	Genetic lipodystrophy (disorder)	true	geïnfereerde relatie	existentiële restrictie (metadata)
Severe neurodegenerative syndrome with lipodystrophy	locatie van bevinding	Structure of nervous system (body structure)	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
Severe neurodegenerative syndrome with lipodystrophy	Associated morphology	Degenerative abnormality	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
Severe neurodegenerative syndrome with lipodystrophy	Is a	Hereditary lipodystrophy (disorder)	false	geïnfereerde relatie	existentiële restrictie (metadata)

Inbound Relationships

Type

Active

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Characteristic

Refinability

Group

This concept is not in any reference sets

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