702347001: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain\Leukoencephalopathy\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Head finding (finding)\Finding of head region\Leukoencephalopathy\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Leukoencephalopathy\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain\Leukoencephalopathy\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Leukoencephalopathy\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

\Hereditary disorder of musculoskeletal system\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)

\Disorder of skeletal system\Skeletal dysplasia\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)

\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Leukoencephalopathy\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Leukoencephalopathy\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	Leukoencephalopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	Osteodysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Finding site	Cerebral white matter structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	Skeletal dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Finding site	Skeletal system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2995380014	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995442014	Presenile dementia with bone cysts	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995477014	PLOSL - polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995855017	Nasu-Hakola disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995871017	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3866566018	Polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3866567010	PLOSL - polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995380014	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995380014	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995442014	Presenile dementia with bone cysts	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995442014	Presenile dementia with bone cysts	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995477014	PLOSL - polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995855017	Nasu-Hakola disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995871017	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995871017	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3866566018	Polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3866567010	PLOSL - polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3453821001000110	Nasu-Hakola-Krankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6494881000241119	ostéodysplasie polykystique lipomembraneuse avec leucoencéphalopathie sclérosante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6494891000241117	maladie de Nasu-Hakola	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6494881000241119	ostéodysplasie polykystique lipomembraneuse avec leucoencéphalopathie sclérosante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6494891000241117	maladie de Nasu-Hakola	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3453821001000110	Nasu-Hakola-Krankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module