24629003: Metaphyseal chondrodysplasia, Jansen type (disorder)

SNOMED CT Concept\Clinical 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 of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type

\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Metaphyseal chondrodysplasia, Jansen type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Metaphyseal chondrodysplasia, Jansen type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, Jansen type
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

41287018 Metaphyseal chondrodysplasia, Jansen type en Synonym Active Initial character case insensitive SNOMED CT core

41288011 Metaphyseal dysostosis, Jansen type en Synonym Active Initial character case insensitive SNOMED CT core

754287016 Metaphyseal chondrodysplasia, Jansen type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metaphyseal chondrodysplasia, Jansen type	Occurrence	Congenital	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Jansen type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Jansen type	Interprets	Height / growth measure	true	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, Jansen type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
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	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Metaphyseal chondrodysplasia, Jansen type	Finding site	Bone structure	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Jansen type	Associated morphology	Congenital dysplasia	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	Congenital dysplasia	false	Inferred relationship	Some	2
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

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
41287018	Metaphyseal chondrodysplasia, Jansen type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
41288011	Metaphyseal dysostosis, Jansen type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
754287016	Metaphyseal chondrodysplasia, Jansen type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core