389268008: Spondyloenchondromatosis (disorder)

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

\Musculoskeletal finding (finding)\Cartilage finding (finding)\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloenchondromatosis (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\Spondyloenchondromatosis (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\Spondyloenchondromatosis (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\Spondyloenchondromatosis (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\Spondyloenchondromatosis (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\Spondyloenchondromatosis (disorder)

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

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

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spondyloenchondromatosis with basal ganglia calcification (disorder)	Is a	True	Spondyloenchondromatosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

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 (core metadata concept)	SNOMED CT core
1483305014	Spondyloenchondromatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1463447019	Spondyloenchondromatosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1463447019	Spondyloenchondromatosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1483305014	Spondyloenchondromatosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1483305014	Spondyloenchondromatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5246921000241111	spondyloenchondromatose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5246921000241111	spondyloenchondromatose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module