709490002: desmosterolosis (aandoening)

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

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Desmosterolosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Desmosterolosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Desmosterolosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Desmosterolosis (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Desmosterolosis (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Desmosterolosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Desmosterolosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Desmosterolosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Desmosterolosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Disease\Metabolic disease\Metabolic bone disease\Desmosterolosis (disorder)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Disorder of cholesterol metabolism (disorder)\Disorder of cholesterol synthesis\Desmosterolosis (disorder)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Disorder of cholesterol synthesis\Desmosterolosis (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Desmosterolosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Neonatal osteosclerotic dysplasia (disorder)\Desmosterolosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Desmosterolosis (disorder)	Is a	Disorder of cholesterol synthesis	true	Inferred relationship	Some
Desmosterolosis (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Desmosterolosis (disorder)	Interprets	Bone density scan	true	Inferred relationship	Some	2
Desmosterolosis (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Desmosterolosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Desmosterolosis (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Desmosterolosis (disorder)	Is a	Neonatal osteosclerotic dysplasia (disorder)	true	Inferred relationship	Some
Desmosterolosis (disorder)	Is a	Metabolic bone disease	true	Inferred relationship	Some
Desmosterolosis (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Desmosterolosis (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Desmosterolosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Desmosterolosis (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Desmosterolosis (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3039582016	Desmosterolosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3040185019	Desmosterolosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6011381000146116	desmosterolosis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6011391000146119	desmosterolosis (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)