Oculomaxillofacial dysostosis 763830009

SNOMED CT code

SNOMED code

763830009

name

Oculomaxillofacial dysostosis

status

active

date introduced

2018-07-31

fully specified name(s)

Oculomaxillofacial dysostosis (disorder)

synonyms

Richieri Costa Gorlin syndrome
Oculomaxillofacial dysostosis

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Dysplasia 25723000

Occurrence

Congenital 255399007

Finding site

Bone structure of cranium 89546000

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Face structure 89545001

Occurrence

Congenital 255399007

attributes - group3

Interprets

Height / growth measure 271603002

parents

Dysostosis of bone of skull 128219005
Short stature disorder 237836003
Multiple malformation syndrome with facial defects as major feature 65094009

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of head 118934005
Disorder of skull 118945008
Congenital anomaly of skull 51655004
Dysostosis of bone of skull 128219005
Oculomaxillofacial dysostosis 763830009

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of general physiological development 271616002
Disorder of stature 237834000
Short stature disorder 237836003
Oculomaxillofacial dysostosis 763830009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of head 118934005
Disorder of face 118930001
Congenital anomaly of face 398302004
Multiple malformation syndrome with facial defects as major feature 65094009
Oculomaxillofacial dysostosis 763830009

ancestors

sorted most to least specific

Dysostosis of bone of skull 128219005
Short stature disorder 237836003
Multiple malformation syndrome with facial defects as major feature 65094009
Dysostosis 109420003
Disorder of stature 237834000
Congenital anomaly of face 398302004
Congenital anomaly of skull 51655004
Multiple system malformation syndrome 82354003
Skeletal dysplasia 105986008
General finding of height 248327008
Disorder of face 118930001
Disorder of skull 118945008
Finding of general physiological development 271616002
Congenital malformation syndrome 400038003
Congenital abnormality of skull and face bones 268239009
Height / growth finding 365714001
Congenital anomaly of skeletal bone 8447006
Congenital anomaly of head 87290003
Finding of face 301310005
Skull finding 248369007
Congenital anomaly of musculoskeletal system 73573004
Body measurement finding 365605003
Disorder of head 118934005
Disorder of bone development 371521007
Finding of head region 298364001
Congenital malformation 276654001
Head finding 406122000
Disorder of bone 76069003
Developmental disorder 5294002
Finding of head and neck region 118254002
Disorder of skeletal system 88230002
Congenital disease 66091009
Bone finding 118953000
Disorder of musculoskeletal system 928000
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

Disorder of head 118934005

Disorder of skull 118945008

Congenital anomaly of skull 51655004

Dysostosis of bone of skull 128219005

Oculomaxillofacial dysostosis 763830009

SNOMED CT code