17818006: Leri-Weill dyschondrosteosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Leri-Weill dyschondrosteosis

\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\Mesomelic dysplasia\Leri-Weill dyschondrosteosis

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Leri-Weill dyschondrosteosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Leri-Weill dyschondrosteosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Leri-Weill dyschondrosteosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Leri-Weill dyschondrosteosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Leri-Weill dyschondrosteosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Leri-Weill dyschondrosteosis

\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Leri-Weill dyschondrosteosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Leri-Weill dyschondrosteosis
\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\Leri-Weill dyschondrosteosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Leri-Weill dyschondrosteosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Leri-Weill dyschondrosteosis
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Leri-Weill dyschondrosteosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Leri-Weill dyschondrosteosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Leri-Weill dyschondrosteosis
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Leri-Weill dyschondrosteosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Leri-Weill dyschondrosteosis
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Leri-Weill dyschondrosteosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Leri-Weill dyschondrosteosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Leri-Weill dyschondrosteosis
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Leri-Weill dyschondrosteosis

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

30101015 Leri-Weill dyschondrosteosis en Synonym Active Entire term case sensitive SNOMED CT core module

745165016 Leri-Weill dyschondrosteosis (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

1221598018 Leri-Weill syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Leri-Weill dyschondrosteosis	Is a	Mesomelic dysplasia	true	Inferred relationship	Existential restriction modifier
Leri-Weill dyschondrosteosis	Is a	Congenital anomaly of upper limb	false	Inferred relationship	Existential restriction modifier
Leri-Weill dyschondrosteosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Leri-Weill dyschondrosteosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Leri-Weill dyschondrosteosis	Finding site	Musculoskeletal structure of upper limb	false	Inferred relationship	Existential restriction modifier
Leri-Weill dyschondrosteosis	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier
Leri-Weill dyschondrosteosis	Finding site	Forearm structure	false	Inferred relationship	Existential restriction modifier	1
Leri-Weill dyschondrosteosis	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Leri-Weill dyschondrosteosis	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Leri-Weill dyschondrosteosis	Is a	Disorder of forearm	false	Inferred relationship	Existential restriction modifier
Leri-Weill dyschondrosteosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Leri-Weill dyschondrosteosis	Finding site	Upper limb structure	false	Inferred relationship	Existential restriction modifier	1
Leri-Weill dyschondrosteosis	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Leri-Weill dyschondrosteosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Leri-Weill dyschondrosteosis	Finding site	Forearm structure	false	Inferred relationship	Existential restriction modifier	1
Leri-Weill dyschondrosteosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Leri-Weill dyschondrosteosis	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Leri-Weill dyschondrosteosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Leri-Weill dyschondrosteosis	Finding site	Upper limb structure	false	Inferred relationship	Existential restriction modifier	2
Leri-Weill dyschondrosteosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Leri-Weill dyschondrosteosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Leri-Weill dyschondrosteosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Leri-Weill dyschondrosteosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Leri-Weill dyschondrosteosis	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Leri-Weill dyschondrosteosis	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	2
Leri-Weill dyschondrosteosis	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Furst-Ostrum syndrome	Is a	False	Leri-Weill dyschondrosteosis	Inferred relationship	Existential restriction modifier
Chondrodysplasia NOS	Is a	False	Leri-Weill dyschondrosteosis	Inferred relationship	Existential restriction modifier
Chondrodysplasia NOS	Is a	False	Leri-Weill dyschondrosteosis	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
30101015	Leri-Weill dyschondrosteosis	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
745165016	Leri-Weill dyschondrosteosis (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
1221598018	Leri-Weill syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module