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

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

Descriptions:

Id Description Lang Type Status Case? Module

481421018 Metatropic dysplasia group en Synonym Active Entire term case insensitive SNOMED CT core module

481422013 Metatropic dwarfism en Synonym Active Entire term case insensitive SNOMED CT core module

481423015 Metatropic dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

2986044012 Metatropic dysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

2986113017 Metatropic dwarfism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

2986137017 Metatropic dwarf en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metatropic dysplasia	Is a	Dwarfism	false	Inferred relationship	Existential restriction modifier
Metatropic dysplasia	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Existential restriction modifier
Metatropic dysplasia	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Metatropic dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Metatropic dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Metatropic dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Metatropic dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Metatropic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Metatropic dysplasia	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Metatropic dysplasia	Is a	Short stature disorder	false	Inferred relationship	Existential restriction modifier
Metatropic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Metatropic dysplasia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Metatropic dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Metatropic dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Metatropic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Metatropic dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Metatropic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Metatropic dysplasia	Is a	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Existential restriction modifier
Metatropic dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Metatropic dysplasia	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	2

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

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
481421018	Metatropic dysplasia group	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
481422013	Metatropic dwarfism	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
481423015	Metatropic dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2986044012	Metatropic dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
2986113017	Metatropic dwarfism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2986137017	Metatropic dwarf	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module