22764001: Metatropic dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metatropic dysplasia

\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

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metatropic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metatropic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metatropic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metatropic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metatropic dysplasia

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

Descriptions:

Id Description Lang Type Status Case? Module

2986044012 Metatropic dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core
2986113017 Metatropic dwarfism syndrome en Synonym Active Case insensitive SNOMED CT core
2986137017 Metatropic dwarf en Synonym Active Case insensitive SNOMED CT core
38212014 Metatrophic dysplasia en Synonym Inactive Initial character case insensitive SNOMED CT core
38213016 Metatrophic dwarfism syndrome en Synonym Inactive Initial character case insensitive SNOMED CT core
38214010 Metatrophic dwarf en Synonym Inactive Initial character case insensitive SNOMED CT core
481421018 Metatropic dysplasia group en Synonym Active Case insensitive SNOMED CT core
481422013 Metatropic dwarfism en Synonym Active Case insensitive SNOMED CT core
481423015 Metatropic dysplasia en Synonym Active Case insensitive SNOMED CT core
752208011 Metatrophic dysplasia (disorder) en Fully specified name Inactive Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metatropic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Metatropic dysplasia	Pathological process	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
Metatropic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Metatropic dysplasia	Is a	True dwarfism	false	Inferred relationship	Some
Metatropic dysplasia	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Metatropic dysplasia	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Metatropic dysplasia	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Metatropic dysplasia	Is a	Short stature disorder	false	Inferred relationship	Some
Metatropic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Metatropic dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Metatropic dysplasia	Associated morphology	Dysplasia	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	Congenital dysplasia	false	Inferred relationship	Some	2
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

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

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
2986044012	Metatropic dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
2986113017	Metatropic dwarfism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
2986137017	Metatropic dwarf	en	Synonym	Active	Case insensitive	SNOMED CT core
38212014	Metatrophic dysplasia	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
38213016	Metatrophic dwarfism syndrome	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
38214010	Metatrophic dwarf	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
481421018	Metatropic dysplasia group	en	Synonym	Active	Case insensitive	SNOMED CT core
481422013	Metatropic dwarfism	en	Synonym	Active	Case insensitive	SNOMED CT core
481423015	Metatropic dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
752208011	Metatrophic dysplasia (disorder)	en	Fully specified name	Inactive	Initial character case insensitive	SNOMED CT core