725417001: Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia

\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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Joint finding\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Joint finding\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Joint finding\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Joint finding\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Injury of musculoskeletal system\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\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\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia

\Disease\Disorder of joint region\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Disorder of joint region\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Disorder of joint region\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Traumatic or non-traumatic injury\Nontraumatic injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Traumatic or non-traumatic injury\Injury of musculoskeletal system\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\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\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Injury of musculoskeletal system\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\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\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\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\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\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\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations\CHST3-related skeletal dysplasia

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

Descriptions:

Id Description Lang Type Status Case? Module

3442466019 Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3442467011 CHST3-related skeletal dysplasia en Synonym Active Case sensitive SNOMED CT core

3442468018 Carbohydrate sulfotransferase 3 related skeletal dysplasia en Synonym Active Case insensitive SNOMED CT core

3442469014 Spondyloepiphyseal dysplasia with congenital joint dyslocations CHST3 type en Synonym Active Initial character case insensitive SNOMED CT core

3442470010 A very rare bone disorder with clinical characteristics of short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
CHST3-related skeletal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
CHST3-related skeletal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
CHST3-related skeletal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
CHST3-related skeletal dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
CHST3-related skeletal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
CHST3-related skeletal dysplasia	Finding site	Joint structure of multiple body sites	true	Inferred relationship	Some	2
CHST3-related skeletal dysplasia	Associated morphology	Dislocation	true	Inferred relationship	Some	2
CHST3-related skeletal dysplasia	Clinical course	Progressive	true	Inferred relationship	Some	3
CHST3-related skeletal dysplasia	Due to	Spontaneous event	true	Inferred relationship	Some	4
CHST3-related skeletal dysplasia	Interprets	Height / growth measure	true	Inferred relationship	Some	5
CHST3-related skeletal dysplasia	Associated morphology	Damage	false	Inferred relationship	Some	6
CHST3-related skeletal dysplasia	Is a	Spondyloepiphyseal dysplasia with congenital joint dislocations	true	Inferred relationship	Some
CHST3-related skeletal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
CHST3-related skeletal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
CHST3-related skeletal dysplasia	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

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3442466019	Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3442467011	CHST3-related skeletal dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
3442468018	Carbohydrate sulfotransferase 3 related skeletal dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3442469014	Spondyloepiphyseal dysplasia with congenital joint dyslocations CHST3 type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3442470010	A very rare bone disorder with clinical characteristics of short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.	en	Definition	Active	Case sensitive	SNOMED CT core