38494008: Langer mesomelic dysplasia syndrome (disorder)

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

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Langer mesomelic dysplasia syndrome

\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\Langer mesomelic dysplasia syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Langer mesomelic dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Langer mesomelic dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Langer mesomelic dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Langer mesomelic dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Langer mesomelic dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Langer mesomelic dysplasia syndrome

\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Langer mesomelic dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Langer mesomelic dysplasia syndrome
\Disease\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\Langer mesomelic dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Langer mesomelic dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Langer mesomelic dysplasia syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Langer mesomelic dysplasia syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Langer mesomelic dysplasia syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Langer mesomelic dysplasia syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Langer mesomelic dysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Langer mesomelic dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Langer mesomelic dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Langer mesomelic dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Langer mesomelic dysplasia syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Langer mesomelic dysplasia syndrome

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Langer mesomelic dysplasia syndrome	Is a	Mesomelic dysplasia	true	Inferred relationship	Some
Langer mesomelic dysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Langer mesomelic dysplasia syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Langer mesomelic dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Langer mesomelic dysplasia syndrome	Finding site	Bone structure	false	Inferred relationship	Some	2
Langer mesomelic dysplasia syndrome	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Langer mesomelic dysplasia syndrome	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Langer mesomelic dysplasia syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Langer mesomelic dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Langer mesomelic dysplasia syndrome	Finding site	Bone structure	false	Inferred relationship	Some	2
Langer mesomelic dysplasia syndrome	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Langer mesomelic dysplasia syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Langer mesomelic dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Langer mesomelic dysplasia syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Langer mesomelic dysplasia syndrome	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Langer mesomelic dysplasia syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
64304018	Langer mesomelic dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
64305017	Homozygous Leri-Weill dyschondrosteosis syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
774085018	Langer mesomelic dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1229436017	Mesomelic dysplasia - Langer type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1229437014	Homozygous dyschondrosteosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2016861000052111	mesomeliskt dysplastiskt syndrom, Langer-typ	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)