722434004: Dysspondyloenchondromatosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding (finding)\Cartilage finding (finding)\Cartilage disorder\Osteochondropathy\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Musculoskeletal finding (finding)\Cartilage finding (finding)\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Osteochondropathy\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Osteochondropathy\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Dysspondyloenchondromatosis (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Osteochondropathy\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Osteochondropathy\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Dysspondyloenchondromatosis (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Dysspondyloenchondromatosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3332052019 Dysspondyloenchondromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3332053012 Dysspondyloenchondromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402927015 Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402928013 Dysspondyloenchondromatosis is a rare skeletal dysplasia characterised by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3332052019 Dysspondyloenchondromatosis (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3332052019 Dysspondyloenchondromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3332053012 Dysspondyloenchondromatosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3332053012 Dysspondyloenchondromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3332054018 A rare skeletal dysplasia with characteristics of anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402927015 Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402928013 Dysspondyloenchondromatosis is a rare skeletal dysplasia characterised by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3438771001000113 Dysspondyloenchondromatose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

875361000172110 dysspondyloenchondromatose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

875361000172110 dysspondyloenchondromatose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3438771001000113 Dysspondyloenchondromatose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysspondyloenchondromatosis (disorder)	Is a	Enchondromatosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysspondyloenchondromatosis (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysspondyloenchondromatosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysspondyloenchondromatosis (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysspondyloenchondromatosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysspondyloenchondromatosis (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysspondyloenchondromatosis (disorder)	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysspondyloenchondromatosis (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysspondyloenchondromatosis (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysspondyloenchondromatosis (disorder)	Finding site	Cartilage structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysspondyloenchondromatosis (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysspondyloenchondromatosis (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3332052019	Dysspondyloenchondromatosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332053012	Dysspondyloenchondromatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402927015	Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402928013	Dysspondyloenchondromatosis is a rare skeletal dysplasia characterised by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332052019	Dysspondyloenchondromatosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3332052019	Dysspondyloenchondromatosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332053012	Dysspondyloenchondromatosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3332053012	Dysspondyloenchondromatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332054018	A rare skeletal dysplasia with characteristics of anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402927015	Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402928013	Dysspondyloenchondromatosis is a rare skeletal dysplasia characterised by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3438771001000113	Dysspondyloenchondromatose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
875361000172110	dysspondyloenchondromatose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
875361000172110	dysspondyloenchondromatose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3438771001000113	Dysspondyloenchondromatose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module