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

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

\Clinical history and observation findings\Finding of general physiological development\Disorder of stature\Short stature disorder\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Clinical history and observation findings\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 (disorder)

\Finding by site\Finding of body region\Disorder of joint region\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Finding of body region\Disorder of joint region\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Finding of body region\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Finding of body region\Joint finding\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Finding of body region\Joint finding\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Finding of body region\Joint finding\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Disorder by body site (disorder)\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\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Larsen-like osseous dysplasia, short stature syndrome (disorder)

\Disease\Traumatic AND/OR non-traumatic injury (disorder)\Nontraumatic injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Disorder by body site (disorder)\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\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Larsen-like osseous dysplasia, short stature syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Larsen-like osseous dysplasia, short stature syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
3655764012	Larsen-like osseous dysplasia, short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3655765013	Larsen-like osseous dysplasia, short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
4160501000052114	syndrom med Larsenliknande ossös dysplasi och kortvuxenhet	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets