764956007: Larsen-like osseous dysplasia, short stature syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Larsen-like osseous dysplasia, short stature syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Larsen-like osseous dysplasia, short stature syndrome

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

\Disease\Disorder of joint region\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Disorder of joint region\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Disorder of joint region\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Traumatic or non-traumatic injury\Nontraumatic injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Traumatic or non-traumatic injury\Injury of musculoskeletal system\Bone injury\Larsen-like osseous dysplasia, short stature 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\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Injury of musculoskeletal system\Bone injury\Larsen-like osseous dysplasia, short stature 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\Larsen-like osseous dysplasia, short stature 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\Larsen-like osseous dysplasia, short stature 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\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Bone injury\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Larsen-like osseous dysplasia, short stature syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Larsen-like osseous dysplasia, short stature syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3655764012 Larsen-like osseous dysplasia, short stature syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3655765013 Larsen-like osseous dysplasia, short stature syndrome en Synonym Active Case sensitive SNOMED CT core

3655679012 A rare primary bone dysplasia with characteristics of a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Larsen-like osseous dysplasia, short stature syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Larsen-like osseous dysplasia, short stature syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Larsen-like osseous dysplasia, short stature syndrome	Finding site	Joint structure of multiple body sites	true	Inferred relationship	Some	2
Larsen-like osseous dysplasia, short stature syndrome	Associated morphology	Dislocation	true	Inferred relationship	Some	2
Larsen-like osseous dysplasia, short stature syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Larsen-like osseous dysplasia, short stature syndrome	Clinical course	Progressive	true	Inferred relationship	Some	3
Larsen-like osseous dysplasia, short stature syndrome	Due to	Spontaneous event	true	Inferred relationship	Some	4
Larsen-like osseous dysplasia, short stature syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	5
Larsen-like osseous dysplasia, short stature syndrome	Associated morphology	Damage	false	Inferred relationship	Some	6
Larsen-like osseous dysplasia, short stature syndrome	Is a	Bone injury	true	Inferred relationship	Some
Larsen-like osseous dysplasia, short stature syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Larsen-like osseous dysplasia, short stature syndrome	Is a	Multiple dislocations with dysplasia	true	Inferred relationship	Some
Larsen-like osseous dysplasia, short stature syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Larsen-like osseous dysplasia, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Larsen-like osseous dysplasia, short stature syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1

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
3655764012	Larsen-like osseous dysplasia, short stature syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3655765013	Larsen-like osseous dysplasia, short stature syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3655679012	A rare primary bone dysplasia with characteristics of a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.	en	Definition	Active	Case sensitive	SNOMED CT core