725165009: omodysplasie autosomique dominante (trouble)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Omodysplasia (disorder)\Autosomal dominant omodysplasia (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\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant omodysplasia (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Omodysplasia (disorder)\Autosomal dominant omodysplasia (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\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant omodysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant omodysplasia (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Autosomal dominant omodysplasia (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant omodysplasia (disorder)	est un(e) (attribut)	Omodysplasia (disorder)	true	Inferred relationship	Some
Autosomal dominant omodysplasia (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal dominant omodysplasia (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Autosomal dominant omodysplasia (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
3439933012	Autosomal dominant omodysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3439934018	Autosomal dominant omodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3439935017	Omodysplasia 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
760931000241111	omodysplasie autosomique dominante (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
875751000172114	omodysplasie autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3439936016	An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core