725104005: cheiro-spondylo-enchondromatose (trouble)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\constatation à propos d'un cartilage\affection du cartilage (trouble)\Osteochondropathy\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Musculoskeletal finding\constatation à propos d'un cartilage\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Osteochondropathy\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Osteochondropathy\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (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\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Osteochondropathy\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)

\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Osteochondropathy\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (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\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Osteochondropathy\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Osteochondropathy\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\Congenital disease\affection congénitale du tissu conjonctif\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Cheirospondyloenchondromatosis (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
Cheirospondyloenchondromatosis (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Cheirospondyloenchondromatosis (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Cheirospondyloenchondromatosis (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Cheirospondyloenchondromatosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cheirospondyloenchondromatosis (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Cheirospondyloenchondromatosis (disorder)	localisation d'une constatation (attribut)	Cartilage structure (body structure)	true	Inferred relationship	Some	2
Cheirospondyloenchondromatosis (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Cheirospondyloenchondromatosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Cheirospondyloenchondromatosis (disorder)	est un(e) (attribut)	Enchondromatosis	true	Inferred relationship	Some
Cheirospondyloenchondromatosis (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Cheirospondyloenchondromatosis (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Cheirospondyloenchondromatosis (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3438596018	Cheirospondyloenchondromatosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3438597010	Cheirospondyloenchondromatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3438598017	Generalized enchondromatosis with platyspondyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3438599013	Generalised enchondromatosis with platyspondyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
760851000241114	cheiro-spondylo-enchondromatose (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
884011000172118	cheiro-spondylo-enchondromatose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
976311000172114	enchondromatose généralisée avec platispondylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3438600011	An extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) with characteristics of symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core