389268008: spondylo-enchondromatose (aandoening)

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\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 (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 (disorder)\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis (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\Spondyloenchondromatosis (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\Spondyloenchondromatosis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloenchondromatosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloenchondromatosis (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\Spondyloenchondromatosis (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\Spondyloenchondromatosis (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\Spondyloenchondromatosis (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\Spondyloenchondromatosis (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\Spondyloenchondromatosis (disorder)
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Spondyloenchondromatosis (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\Spondyloenchondromatosis (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\Spondyloenchondromatosis (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloenchondromatosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Spondyloenchondromatosis (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\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	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Spondyloenchondromatosis (disorder)	Is a	Disorganized development of cartilaginous and fibrous components of the skeleton	true	Inferred relationship	Some
Spondyloenchondromatosis (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Spondyloenchondromatosis (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Spondyloenchondromatosis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Spondyloenchondromatosis (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Spondyloenchondromatosis (disorder)	Is a	Connective tissue hereditary disorder (disorder)	true	Inferred relationship	Some
Spondyloenchondromatosis (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Spondyloenchondromatosis (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Spondyloenchondromatosis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Spondyloenchondromatosis (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Spondyloenchondromatosis (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Spondyloenchondromatosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondyloenchondromatosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloenchondromatosis (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondyloenchondromatosis (disorder)	Finding site	Cartilage structure (body structure)	true	Inferred relationship	Some	1
Spondyloenchondromatosis (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spondyloenchondromatosis with basal ganglia calcification (disorder)	Is a	True	Spondyloenchondromatosis (disorder)	Inferred relationship	Some

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
6376231000146111	spondylo-enchondromatose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6376241000146115	spondylo-enchondromatose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6376251000146117	SPENCD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6376261000146119	spondylo-enchondrodysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)