709490002: desmostérolose (trouble)

SNOMED CT Concept\constatation clinique\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density\ostéosclérose néonatale\Desmosterolosis (disorder)

\constatation générale à propos de l'observation du patient\constatation liée à une intervention\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density\ostéosclérose néonatale\Desmosterolosis (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density\ostéosclérose néonatale\Desmosterolosis (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\ostéosclérose néonatale\Desmosterolosis (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Dysplasia with increased bone density\ostéosclérose néonatale\Desmosterolosis (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Desmosterolosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Desmosterolosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\ostéosclérose néonatale\Desmosterolosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\ostéosclérose néonatale\Desmosterolosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\ostéosclérose néonatale\Desmosterolosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Desmosterolosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\ostéosclérose néonatale\Desmosterolosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\ostéosclérose néonatale\Desmosterolosis (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Desmosterolosis (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Desmosterolosis (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Desmosterolosis (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Desmosterolosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Desmosterolosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\ostéosclérose néonatale\Desmosterolosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\ostéosclérose néonatale\Desmosterolosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\ostéosclérose néonatale\Desmosterolosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Desmosterolosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\ostéosclérose néonatale\Desmosterolosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\ostéosclérose néonatale\Desmosterolosis (disorder)
\Disease\trouble métabolique\maladie métabolique de l'os\Desmosterolosis (disorder)
\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid metabolism\Disorder of cholesterol metabolism\Disorder of cholesterol synthesis\Desmosterolosis (disorder)
\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\Disorder of cholesterol synthesis\Desmosterolosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\ostéosclérose néonatale\Desmosterolosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\ostéosclérose néonatale\Desmosterolosis (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\ostéosclérose néonatale\Desmosterolosis (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Desmosterolosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\ostéosclérose néonatale\Desmosterolosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\ostéosclérose néonatale\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)	interprète (attribut)	ostéodensitométrie	true	Inferred relationship	Some	2
Desmosterolosis (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Desmosterolosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Desmosterolosis (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Desmosterolosis (disorder)	est un(e) (attribut)	ostéosclérose néonatale	true	Inferred relationship	Some
Desmosterolosis (disorder)	est un(e) (attribut)	maladie métabolique de l'os	true	Inferred relationship	Some
Desmosterolosis (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Desmosterolosis (disorder)	a pour interprétation (attribut)	au-dessus de l'étendue de référence	true	Inferred relationship	Some	2
Desmosterolosis (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Desmosterolosis (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Desmosterolosis (disorder)	est un(e) (attribut)	Disorder of cholesterol synthesis	true	Inferred relationship	Some
Desmosterolosis (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start

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
738521000241110	desmostérolose (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
878641000172110	desmostérolose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)