715242008: dysplasie métaphysaire cubitale (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of bone of upper limb\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)

\constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Finding of bone of upper limb\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Ulna metaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (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\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (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\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (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\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (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\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Ulna metaphyseal dysplasia syndrome (disorder)
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ulna metaphyseal dysplasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ulna metaphyseal dysplasia syndrome (disorder)	localisation d'une constatation (attribut)	ulna	true	Inferred relationship	Some	1
Ulna metaphyseal dysplasia syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Ulna metaphyseal dysplasia syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Ulna metaphyseal dysplasia syndrome (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Ulna metaphyseal dysplasia syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Ulna metaphyseal dysplasia syndrome (disorder)	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	2
Ulna metaphyseal dysplasia syndrome (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Ulna metaphyseal dysplasia syndrome (disorder)	est un(e) (attribut)	Metaphyseal chondrodysplasia	true	Inferred relationship	Some
Ulna metaphyseal dysplasia syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of ulna (disorder)	true	Inferred relationship	Some
Ulna metaphyseal dysplasia syndrome (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Ulna metaphyseal dysplasia syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Ulna metaphyseal dysplasia syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Ulna metaphyseal dysplasia syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Ulna metaphyseal dysplasia syndrome (disorder)	localisation d'une constatation (attribut)	ulna	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3301973018	Ulna metaphyseal dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3301974012	Ulna metaphyseal dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3301975013	Rosenberg-Lohr syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
746891000241110	dysplasie métaphysaire cubitale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
946941000172111	syndrome de Rosenberg-Löhr	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
996741000172118	dysplasie métaphysaire cubitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)