24629003: Metaphyseal chondrodysplasia, Jansen type (disorder)

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

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\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\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Metaphyseal chondrodysplasia, Jansen type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Metaphyseal chondrodysplasia, Jansen type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metaphyseal chondrodysplasia, Jansen type	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Metaphyseal chondrodysplasia, Jansen type	Is a	Metaphyseal chondrodysplasia	true	Inferred relationship	Some
Metaphyseal chondrodysplasia, Jansen type	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Jansen type	Occurrence	Congenital	false	Inferred relationship	Some
Metaphyseal chondrodysplasia, Jansen type	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Jansen type	Finding site	Bone structure	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Jansen type	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Jansen type	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Metaphyseal chondrodysplasia, Jansen type	Finding site	Bone structure	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Jansen type	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Jansen type	Occurrence	Congenital	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, Jansen type	Finding site	Bone structure	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, Jansen type	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, Jansen type	Occurrence	Congenital	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Jansen type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Jansen type	Interprets	Height / growth measure	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
41287018	Metaphyseal chondrodysplasia, Jansen type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
41288011	Metaphyseal dysostosis, Jansen type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
754287016	Metaphyseal chondrodysplasia, Jansen type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1996411000052116	metafyseal kondrodysplasi, Jansen-typ	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)