CHST3-related skeletal dysplasia 725417001

SNOMED CT code

SNOMED code

725417001

name

CHST3-related skeletal dysplasia

status

active

date introduced

2017-07-31

fully specified name(s)

Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)

synonyms

CHST3-related skeletal dysplasia
Carbohydrate sulfotransferase 3 related skeletal dysplasia
Spondyloepiphyseal dysplasia with congenital joint dyslocations CHST3 type

attributes - group1

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Bone structure 272673000

Associated morphology

Dysplasia 25723000

attributes - group2

Finding site

Joint structure of multiple body sites 773190007

Associated morphology

Dislocation 87642003

attributes - group3

Clinical course

Progressive 255314001

attributes - group4

Due to

Spontaneous event 789750003

attributes - group5

Interprets

Height / growth measure 271603002

parents

Spondyloepiphyseal dysplasia with congenital joint dislocations 702400006

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Spondyloepiphyseal dysplasia with congenital joint dislocations 702400006
CHST3-related skeletal dysplasia 725417001

ancestors

sorted most to least specific

Spondyloepiphyseal dysplasia with congenital joint dislocations 702400006
Spondyloepimetaphyseal disorder 254062008
Multiple dislocations with dysplasia 254098000
Bone injury 284003005
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Autosomal recessive hereditary disorder 85995004
Metaphyseal chondrodysplasia 28681006
Hereditary disorder by system 363137000
Autosomal hereditary disorder 1899006
Pathological dislocation of multiple joints 202175000
Chronic arthropathy 38850007
Skeletal dysplasia 105986008
Hereditary disease 32895009
Congenital malformation syndromes associated with short stature 205808005
Congenital anomaly of skeletal bone 8447006
Polyarthropathy 36186002
Chronic disease of musculoskeletal system 128237006
Pathological dislocation of joint 80406003
Congenital anomaly of musculoskeletal system 73573004
Genetic disease 782964007
Short stature disorder 237836003
Disorder of bone development 371521007
Chronic disease 27624003
Congenital malformation syndrome 400038003
Dislocation of joint 108367008
Nontraumatic injury 1119219007
Joint injury 125610000
Congenital malformation 276654001
Injury of musculoskeletal system 105606008
Disorder of stature 237834000
Arthropathy 399269003
Disorder of bone 76069003
Developmental disorder 5294002
Traumatic or non-traumatic injury 417163006
General finding of height 248327008
Disorder of skeletal system 88230002
Congenital disease 66091009
Joint finding 118952005
Bone finding 118953000
Finding of general physiological development 271616002
Disorder of joint region 785875003
Height / growth finding 365714001
Disorder of musculoskeletal system 928000
Body measurement finding 365605003
Musculoskeletal finding 106028002
Disorder of body system 362965005
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Developmental disorder 5294002

Developmental hereditary disorder 363070008

Spondyloepiphyseal dysplasia with congenital joint dislocations 702400006

CHST3-related skeletal dysplasia 725417001

SNOMED CT code