Goldblatt syndrome 717823001

SNOMED CT code

SNOMED code

717823001

name

Goldblatt syndrome

status

active

date introduced

2017-01-31

fully specified name(s)

Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)

synonyms

Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome
Goldblatt chondrodysplasia
Goldblatt syndrome
Odontochondrodysplasia

attributes - group2

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Dysplasia 25723000

Finding site

Bone structure of extremity 48566001

attributes - group1

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Dentin structure 84540008

attributes - group3

Interprets

Limb length 164835000

Has interpretation

Below reference range 281300000

attributes - group4

Interprets

Body height measure 50373000

Has interpretation

Below reference range 281300000

parents

Dentinogenesis imperfecta 196286005
Metaphyseal chondrodysplasia 28681006
Hereditary disorder of musculoskeletal system 363212003
Multiple system malformation syndrome 82354003
Congenital dysplasia of limb 88631000119105

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Dentinogenesis imperfecta 196286005
Goldblatt syndrome 717823001

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Disorder of bone development 371521007
Congenital anomaly of skeletal bone 8447006
Metaphyseal chondrodysplasia 28681006
Goldblatt syndrome 717823001

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Disorder of musculoskeletal system 928000
Hereditary disorder of musculoskeletal system 363212003
Goldblatt syndrome 717823001

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Congenital malformation 276654001
Congenital malformation syndrome 400038003
Multiple system malformation syndrome 82354003
Goldblatt syndrome 717823001

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Disorder of limb 128605003
Congenital anomaly of limb 60475009
Congenital dysplasia of limb 88631000119105
Goldblatt syndrome 717823001

ancestors

sorted most to least specific

Dentinogenesis imperfecta 196286005
Metaphyseal chondrodysplasia 28681006
Hereditary disorder of musculoskeletal system 363212003
Multiple system malformation syndrome 82354003
Congenital dysplasia of limb 88631000119105
Autosomal dominant hereditary disorder 11164009
Skeletal dysplasia 105986008
Congenital anomaly of limb 60475009
Hereditary disorder of tooth 1148766007
Developmental hereditary disorder 363070008
Congenital anomaly of tooth 422977003
Disorder of hard tissues of teeth 46557008
Congenital malformation syndromes associated with short stature 205808005
Congenital anomaly of skeletal bone 8447006
Autosomal hereditary disorder 1899006
Congenital anomaly of musculoskeletal system 73573004
Congenital malformation syndrome 400038003
Disorder of limb 128605003
Congenital anomaly of digestive organ 128332003
Short stature disorder 237836003
Disorder of bone development 371521007
Digestive system hereditary disorder 363080007
Congenital abnormality of oral cavity 282041002
Malformation of tooth 422775003
Congenital anomaly of jaw 95473006
Hereditary disorder by system 363137000
Finding of limb structure 302293008
Disorder of stature 237834000
Disorder of tooth development 371136004
Disorder of bone 76069003
Congenital anomaly of mouth 128334002
Hereditary disease 32895009
Tooth disorder 234947003
General finding of height 248327008
Disorder of skeletal system 88230002
Finding of general physiological development 271616002
Bone finding 118953000
Congenital anomaly of head 87290003
Congenital malformation of upper alimentary tract 275262008
Genetic disease 782964007
Disorder of teeth AND/OR supporting structures 105995000
Height / growth finding 365714001
Disorder of musculoskeletal system 928000
Tooth finding 278544002
Disorder of digestive organ 76712006
Congenital anomaly of digestive tract 95470009
Oral cavity finding 116337000
Congenital anomaly of digestive system 69518005
Body measurement finding 365605003
Musculoskeletal finding 106028002
Disease of mouth 118938008
Disorder of jaw 37156001
Congenital malformation 276654001
Finding of mouth region 423066003
Disorder of head 118934005
Disorder of upper digestive tract 50410009
Developmental disorder 5294002
Finding of head region 298364001
Congenital disease 66091009
Disorder of digestive tract 84410009
Head finding 406122000
Disorder of digestive system 53619000
Finding of head and neck region 118254002
Disorder of body system 362965005
Digestive system finding 386617003
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

Dentinogenesis imperfecta 196286005

Goldblatt syndrome 717823001

SNOMED CT code