22764001: Metatropic dysplasia (disorder)

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

\Clinical history and observation findings\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metatropic dysplasia
\Clinical history and observation findings\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\Metatropic dysplasia

\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metatropic dysplasia
\Finding by site\Disorder by body site (disorder)\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\Metatropic dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metatropic dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metatropic dysplasia
\Finding by site\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metatropic dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metatropic dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metatropic dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metatropic dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metatropic dysplasia

\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metatropic dysplasia
\Disease\Disorder by body site (disorder)\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\Metatropic dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metatropic dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metatropic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metatropic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Metatropic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metatropic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metatropic dysplasia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metatropic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metatropic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Metatropic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metatropic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metatropic dysplasia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metatropic dysplasia

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
481421018	Metatropic dysplasia group	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
481422013	Metatropic dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
481423015	Metatropic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
2986044012	Metatropic dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
2986113017	Metatropic dwarfism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
2986137017	Metatropic dwarf	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
1111241000052114	metatrop dysplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metatropic dysplasia	Is a	äkta dvärgväxt	false	Inferred relationship	Some
Metatropic dysplasia	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Metatropic dysplasia	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Metatropic dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Metatropic dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Metatropic dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Metatropic dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Metatropic dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Metatropic dysplasia	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Metatropic dysplasia	Is a	Short stature disorder	false	Inferred relationship	Some
Metatropic dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Metatropic dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Metatropic dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Metatropic dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Metatropic dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Metatropic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Metatropic dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Metatropic dysplasia	Is a	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Some
Metatropic dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Metatropic dysplasia	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Schneckenbecken dysplasia	Is a	True	Metatropic dysplasia	Inferred relationship	Some
Fibrochondrogenesis	Is a	False	Metatropic dysplasia	Inferred relationship	Some
Parastremmatic dwarfism (disorder)	Is a	True	Metatropic dysplasia	Inferred relationship	Some

This concept is not in any reference sets

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