254060000: Otospondylomegaepiphyseal dysplasia (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Otospondylomegaepiphyseal dysplasia
\constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\affection du rachis\Otospondylomegaepiphyseal dysplasia
\constatation à propos du dos\Finding of spinal region\Vertebral column finding\affection du rachis\Otospondylomegaepiphyseal dysplasia
\constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Otospondylomegaepiphyseal dysplasia
\constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Otospondylomegaepiphyseal dysplasia
\constatation à propos du dos\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Otospondylomegaepiphyseal dysplasia

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia

\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\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia

\Musculoskeletal finding\Vertebral column finding\affection du rachis\Otospondylomegaepiphyseal dysplasia
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Otospondylomegaepiphyseal dysplasia
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\Otospondylomegaepiphyseal dysplasia
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\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\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otospondylomegaepiphyseal dysplasia
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Otospondylomegaepiphyseal dysplasia
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otospondylomegaepiphyseal dysplasia
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Otospondylomegaepiphyseal dysplasia
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\Otospondylomegaepiphyseal dysplasia
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\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\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\Otospondylomegaepiphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Otospondylomegaepiphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Otospondylomegaepiphyseal dysplasia
\Disease\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Otospondylomegaepiphyseal dysplasia
\Disease\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Otospondylomegaepiphyseal dysplasia
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\trouble du développement\Developmental hereditary disorder\Otospondylomegaepiphyseal dysplasia
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\Otospondylomegaepiphyseal dysplasia
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Otospondylomegaepiphyseal dysplasia
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Otospondylomegaepiphyseal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Otospondylomegaepiphyseal dysplasia	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Otospondylomegaepiphyseal dysplasia	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Otospondylomegaepiphyseal dysplasia	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	est un(e) (attribut)	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	est un(e) (attribut)	Spondyloepimetaphyseal disorder	true	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	2
Otospondylomegaepiphyseal dysplasia	est un(e) (attribut)	affection du tronc	false	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	est un(e) (attribut)	Disorder of spine	false	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Otospondylomegaepiphyseal dysplasia	est un(e) (attribut)	Congenital anomaly of spine	true	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	est un(e) (attribut)	résultat concernant une vertèbre	false	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Otospondylomegaepiphyseal dysplasia	localisation d'une constatation (attribut)	structure osseuse de la colonne vertébrale (structure corporelle)	true	Inferred relationship	Some	1
Otospondylomegaepiphyseal dysplasia	est un(e) (attribut)	affection du rachis	true	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Otospondylomegaepiphyseal dysplasia	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Otospondylomegaepiphyseal dysplasia	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Otospondylomegaepiphyseal dysplasia	survenue (attribut)	congénital	false	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Otospondylomegaepiphyseal dysplasia	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Otospondylomegaepiphyseal dysplasia	localisation d'une constatation (attribut)	structure osseuse de la colonne vertébrale (structure corporelle)	false	Inferred relationship	Some	1
Otospondylomegaepiphyseal dysplasia	est un(e) (attribut)	Kniest-Stickler dysplasia group	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

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

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
378207018	Otospondylomegaepiphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
561171000241119	dysplasie oto-spondylo-mégaépiphysaire (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
644900015	Otospondylomegaepiphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
940391000172116	dysplasie oto-spondylo-mégaépiphysaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
971091000172112	OSMED - otospondylomegaepiphyseal dysplasia	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)