715674008: dysplasie épiphysaire multiple type 5 (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (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\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (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\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (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\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (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\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (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\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (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\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\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\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia type 5 (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3303380016 Multiple epiphyseal dysplasia type 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3303381017 Multiple epiphyseal dysplasia type 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3303382012 Polyepiphyseal dysplasia type 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

748281000241113 dysplasie épiphysaire multiple type 5 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

908621000172119 dysplasie polyépiphysaire type 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

974221000172119 dysplasie épiphysaire multiple type 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3303383019 A type of multiple epiphyseal dysplasia manifesting with early onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Specific features include normal stature and lesser incidence of gait abnormalities. Follows an autosomal dominant mode of transmission. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple epiphyseal dysplasia type 5 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia type 5 (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia type 5 (disorder)	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	2
Multiple epiphyseal dysplasia type 5 (disorder)	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	3
Multiple epiphyseal dysplasia type 5 (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Multiple epiphyseal dysplasia type 5 (disorder)	est un(e) (attribut)	dysplasie épiphysaire multiple	true	Inferred relationship	Some
Multiple epiphyseal dysplasia type 5 (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	3
Multiple epiphyseal dysplasia type 5 (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Multiple epiphyseal dysplasia type 5 (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	3
Multiple epiphyseal dysplasia type 5 (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	4
Multiple epiphyseal dysplasia type 5 (disorder)	localisation d'une constatation (attribut)	Structure of epiphysis	false	Inferred relationship	Some	4
Multiple epiphyseal dysplasia type 5 (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Multiple epiphyseal dysplasia type 5 (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia type 5 (disorder)	localisation d'une constatation (attribut)	Structure of epiphysis	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3303380016	Multiple epiphyseal dysplasia type 5 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303381017	Multiple epiphyseal dysplasia type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303382012	Polyepiphyseal dysplasia type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
748281000241113	dysplasie épiphysaire multiple type 5 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
908621000172119	dysplasie polyépiphysaire type 5	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
974221000172119	dysplasie épiphysaire multiple type 5	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3303383019	A type of multiple epiphyseal dysplasia manifesting with early onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Specific features include normal stature and lesser incidence of gait abnormalities. Follows an autosomal dominant mode of transmission.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core