725104005: Cheirospondyloenchondromatosis (disorder)

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

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

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

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cheirospondyloenchondromatosis (disorder)	Is a	Enchondromatosis	true	Inferred relationship	Some
Cheirospondyloenchondromatosis (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Cheirospondyloenchondromatosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Cheirospondyloenchondromatosis (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Cheirospondyloenchondromatosis (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Cheirospondyloenchondromatosis (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Cheirospondyloenchondromatosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Cheirospondyloenchondromatosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cheirospondyloenchondromatosis (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Cheirospondyloenchondromatosis (disorder)	Finding site	Cartilage structure (body structure)	true	Inferred relationship	Some	2
Cheirospondyloenchondromatosis (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Cheirospondyloenchondromatosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	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
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