725104005: Cheirospondyloenchondromatosis (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Osteochondropathy\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Osteochondropathy\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Cartilage disorder\Osteochondropathy\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Congenital disease\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Cheirospondyloenchondromatosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Cheirospondyloenchondromatosis

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3438596018 Cheirospondyloenchondromatosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3438597010 Cheirospondyloenchondromatosis en Synonym Active Case insensitive SNOMED CT core

3438598017 Generalized enchondromatosis with platyspondyly en Synonym Active Case insensitive SNOMED CT core

3438599013 Generalised enchondromatosis with platyspondyly en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3438596018	Cheirospondyloenchondromatosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3438597010	Cheirospondyloenchondromatosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3438598017	Generalized enchondromatosis with platyspondyly	en	Synonym	Active	Case insensitive	SNOMED CT core
3438599013	Generalised enchondromatosis with platyspondyly	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core