389268008: Spondyloenchondromatosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Cartilage finding\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloenchondromatosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis
\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\Spondyloenchondromatosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis
\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\Spondyloenchondromatosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloenchondromatosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloenchondromatosis
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Spondyloenchondromatosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloenchondromatosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloenchondromatosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloenchondromatosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis
\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\Spondyloenchondromatosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis
\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\Spondyloenchondromatosis
\Disease\Disorder of connective tissue\Connective tissue hereditary disorder\Spondyloenchondromatosis
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis
\Disease\Congenital disease\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloenchondromatosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2003. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

1463447019 Spondyloenchondromatosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1483305014 Spondyloenchondromatosis en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloenchondromatosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Spondyloenchondromatosis	Is a	Disorganized development of cartilaginous and fibrous components of the skeleton	true	Inferred relationship	Existential restriction modifier
Spondyloenchondromatosis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Spondyloenchondromatosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spondyloenchondromatosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Spondyloenchondromatosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Spondyloenchondromatosis	Is a	Connective tissue hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spondyloenchondromatosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Spondyloenchondromatosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Spondyloenchondromatosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Spondyloenchondromatosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Spondyloenchondromatosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Spondyloenchondromatosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Spondyloenchondromatosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Spondyloenchondromatosis	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Spondyloenchondromatosis	Finding site	Cartilage structure	true	Inferred relationship	Existential restriction modifier	1
Spondyloenchondromatosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spondyloenchondromatosis with basal ganglia calcification	Is a	True	Spondyloenchondromatosis	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1463447019	Spondyloenchondromatosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1483305014	Spondyloenchondromatosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module