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709490002: Desmosterolosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Neonatal osteosclerotic dysplasia\Desmosterolosis

\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Neonatal osteosclerotic dysplasia\Desmosterolosis

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3039582016 Desmosterolosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3040185019 Desmosterolosis en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3039582016	Desmosterolosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3040185019	Desmosterolosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module