59708000: Multiple epiphyseal dysplasia (disorder)

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

\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

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

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Epiphyseal dysplasia\dysplasie épiphysaire multiple
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple
\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
\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
\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
\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
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple
\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
\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
\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
\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
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple
\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
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Epiphyseal dysplasia\dysplasie épiphysaire multiple
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple
\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
\Disease\trouble du développement\Developmental hereditary disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple
\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
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple
\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
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple
\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
\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

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
dysplasie épiphysaire multiple	survenue (attribut)	congénital	true	Inferred relationship	Some	1
dysplasie épiphysaire multiple	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
dysplasie épiphysaire multiple	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	2
dysplasie épiphysaire multiple	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	3
dysplasie épiphysaire multiple	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
dysplasie épiphysaire multiple	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
dysplasie épiphysaire multiple	est un(e) (attribut)	Epiphyseal dysplasia	true	Inferred relationship	Some
dysplasie épiphysaire multiple	est un(e) (attribut)	dysplasie spondylo-épiphysaire tardive (trouble)	true	Inferred relationship	Some
dysplasie épiphysaire multiple	est un(e) (attribut)	Disorder of epiphysis	false	Inferred relationship	Some
dysplasie épiphysaire multiple	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
dysplasie épiphysaire multiple	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
dysplasie épiphysaire multiple	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
dysplasie épiphysaire multiple	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
dysplasie épiphysaire multiple	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
dysplasie épiphysaire multiple	localisation d'une constatation (attribut)	Structure of epiphysis	false	Inferred relationship	Some	1
dysplasie épiphysaire multiple	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
dysplasie épiphysaire multiple	survenue (attribut)	congénital	false	Inferred relationship	Some	2
dysplasie épiphysaire multiple	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
dysplasie épiphysaire multiple	survenue (attribut)	congénital	false	Inferred relationship	Some	3
dysplasie épiphysaire multiple	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
dysplasie épiphysaire multiple	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
dysplasie épiphysaire multiple	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
dysplasie épiphysaire multiple	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	3
dysplasie épiphysaire multiple	localisation d'une constatation (attribut)	Structure of epiphysis	false	Inferred relationship	Some	3
dysplasie épiphysaire multiple	survenue (attribut)	congénital	false	Inferred relationship	Some
dysplasie épiphysaire multiple	localisation d'une constatation (attribut)	Structure of epiphysis	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Multiple epiphyseal dysplasia tarda type IIIa	est un(e) (attribut)	True	dysplasie épiphysaire multiple	Inferred relationship	Some
Multiple epiphyseal dysplasia NOS	est un(e) (attribut)	False	dysplasie épiphysaire multiple	Inferred relationship	Some
Multiple epiphyseal dysplasia type 4 (disorder)	est un(e) (attribut)	True	dysplasie épiphysaire multiple	Inferred relationship	Some
dysplasie épiphysaire multiple type 1	est un(e) (attribut)	True	dysplasie épiphysaire multiple	Inferred relationship	Some
Multiple epiphyseal dysplasia type 5 (disorder)	est un(e) (attribut)	True	dysplasie épiphysaire multiple	Inferred relationship	Some
dysplasie épiphysaire multiple type Al-Gazali	est un(e) (attribut)	True	dysplasie épiphysaire multiple	Inferred relationship	Some
Multiple epiphyseal dysplasia Beighton type (disorder)	est un(e) (attribut)	True	dysplasie épiphysaire multiple	Inferred relationship	Some
Eiken syndrome (disorder)	est un(e) (attribut)	True	dysplasie épiphysaire multiple	Inferred relationship	Some
Hip dysplasia Beukes type (disorder)	est un(e) (attribut)	True	dysplasie épiphysaire multiple	Inferred relationship	Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	est un(e) (attribut)	True	dysplasie épiphysaire multiple	Inferred relationship	Some
Wolcott-Rallison dysplasia	est un(e) (attribut)	True	dysplasie épiphysaire multiple	Inferred relationship	Some
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder)	est un(e) (attribut)	True	dysplasie épiphysaire multiple	Inferred relationship	Some
dysplasie épiphysaire multiple due à une anomalie du collagène 9	est un(e) (attribut)	True	dysplasie épiphysaire multiple	Inferred relationship	Some
Multiple epiphyseal dysplasia with miniepiphyses	est un(e) (attribut)	True	dysplasie épiphysaire multiple	Inferred relationship	Some
Multiple epiphyseal dysplasia Lowry type (disorder)	est un(e) (attribut)	True	dysplasie épiphysaire multiple	Inferred relationship	Some

Reference Sets

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

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1002791000172117	dysplasie épiphysaire multiple	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
1231992015	Fairbanks-Ribbing type epiphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1231993013	MED - Multiple epiphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
447321000241114	dysplasie épiphysaire multiple (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
798580016	Multiple epiphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
947721000172118	dysplasie polyépiphysaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
99192010	Multiple epiphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core