719409004: Lethal Larsen-like syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Lethal Larsen-like syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Bone injury\Lethal Larsen-like syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lethal Larsen-like syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Injury of musculoskeletal system\Bone injury\Lethal Larsen-like syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Lethal Larsen-like syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Bone injury\Lethal Larsen-like syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Lethal Larsen-like syndrome

\Disease\Disorder of joint region\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Disorder of joint region\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Disorder of joint region\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal Larsen-like syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lethal Larsen-like syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal Larsen-like syndrome
\Disease\Traumatic or non-traumatic injury\Nontraumatic injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Traumatic or non-traumatic injury\Injury of musculoskeletal system\Bone injury\Lethal Larsen-like syndrome
\Disease\Traumatic or non-traumatic injury\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal Larsen-like syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lethal Larsen-like syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Injury of musculoskeletal system\Bone injury\Lethal Larsen-like syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Lethal Larsen-like syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Bone injury\Lethal Larsen-like syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Lethal Larsen-like syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Lethal Larsen-like syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Lethal Larsen-like syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Lethal Larsen-like syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Lethal Larsen-like syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Lethal Larsen-like syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3316246015 Lethal Larsen-like syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3316247012 Lethal Larsen-like syndrome en Synonym Active Initial character case insensitive SNOMED CT core

3316248019 Larsen-like syndrome, lethal type, has characteristics of multiple joint dislocation and respiratory insufficiency due to tracheomalacia and or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients. Genetic factors have not been ruled out. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal Larsen-like syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Lethal Larsen-like syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Lethal Larsen-like syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Lethal Larsen-like syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Lethal Larsen-like syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Lethal Larsen-like syndrome	Finding site	Joint structure of multiple body sites	true	Inferred relationship	Some	2
Lethal Larsen-like syndrome	Associated morphology	Dislocation	true	Inferred relationship	Some	2
Lethal Larsen-like syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Lethal Larsen-like syndrome	Clinical course	Progressive	true	Inferred relationship	Some	3
Lethal Larsen-like syndrome	Due to	Spontaneous event	true	Inferred relationship	Some	4
Lethal Larsen-like syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Lethal Larsen-like syndrome	Associated morphology	Damage	false	Inferred relationship	Some	5
Lethal Larsen-like syndrome	Is a	Bone injury	true	Inferred relationship	Some
Lethal Larsen-like syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lethal Larsen-like syndrome	Is a	Multiple dislocations with dysplasia	true	Inferred relationship	Some
Lethal Larsen-like syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Lethal Larsen-like syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Lethal Larsen-like syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Lethal Larsen-like syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Lethal Larsen-like 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

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Strength reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3316246015	Lethal Larsen-like syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3316247012	Lethal Larsen-like syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3316248019	Larsen-like syndrome, lethal type, has characteristics of multiple joint dislocation and respiratory insufficiency due to tracheomalacia and or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients. Genetic factors have not been ruled out.	en	Definition	Active	Case sensitive	SNOMED CT core