38494008: Langer mesomelic dysplasia syndrome (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\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 of bone development\Congenital anomaly of skeletal bone\Langer mesomelic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Langer mesomelic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Langer mesomelic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Langer mesomelic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Langer mesomelic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Langer mesomelic dysplasia syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

1229436017 Mesomelic dysplasia - Langer type en Synonym Active Initial character case insensitive SNOMED CT core

1229437014 Homozygous dyschondrosteosis en Synonym Active Case insensitive SNOMED CT core

64304018 Langer mesomelic dysplasia syndrome en Synonym Active Case sensitive SNOMED CT core

64305017 Homozygous Leri-Weill dyschondrosteosis syndrome en Synonym Active Initial character case insensitive SNOMED CT core

774085018 Langer mesomelic dysplasia syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Langer mesomelic dysplasia syndrome	Pathological process	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	true	Inferred relationship	Some	2
Langer mesomelic dysplasia syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Langer mesomelic dysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Langer mesomelic dysplasia syndrome	Is a	Mesomelic dysplasia	true	Inferred relationship	Some
Langer mesomelic dysplasia syndrome	Associated morphology	Congenital dysplasia	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	Congenital dysplasia	false	Inferred relationship	Some	2
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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
1229436017	Mesomelic dysplasia - Langer type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1229437014	Homozygous dyschondrosteosis	en	Synonym	Active	Case insensitive	SNOMED CT core
64304018	Langer mesomelic dysplasia syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
64305017	Homozygous Leri-Weill dyschondrosteosis syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
774085018	Langer mesomelic dysplasia syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core