Oro-facial digital syndrome type 12 763834000

SNOMED CT code

SNOMED code

763834000

name

Oro-facial digital syndrome type 12

status

active

date introduced

2018-07-31

fully specified name(s)

Oro-facial digital syndrome type 12 (disorder)

synonyms

Oro-facial digital syndrome type 12
Orofaciodigital syndrome type 12
Moran Barroso syndrome

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Heart structure 80891009

attributes - group5

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Central nervous system structure 21483005

Occurrence

Congenital 255399007

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Structure of internal part of mouth 700016008

attributes - group7

Pathological process

Pathological developmental process 308490002

Associated morphology

Dysplasia 25723000

Occurrence

Congenital 255399007

Finding site

Ectoderm structure 63206006

attributes - group4

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

attributes - group6

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Skin structure 39937001

attributes - group3

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Digit structure 82680008

parents

Congenital anomaly of central nervous system 128124001
Congenital heart disease 13213009
Oral-facial-digital syndrome 52868006

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Central nervous system finding 246556002
Disorder of the central nervous system 23853001
Congenital anomaly of central nervous system 128124001
Oro-facial digital syndrome type 12 763834000

SNOMED CT Concept 138875005
Clinical finding 404684003
Cardiovascular finding 106063007
Cardiac finding 301095005
Heart disease 56265001
Structural disorder of heart 128599005
Congenital heart disease 13213009
Oro-facial digital syndrome type 12 763834000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Oral-facial-digital syndrome 52868006
Oro-facial digital syndrome type 12 763834000

ancestors

sorted most to least specific

Congenital anomaly of central nervous system 128124001
Congenital heart disease 13213009
Oral-facial-digital syndrome 52868006
Disorder of the central nervous system 23853001
Structural disorder of heart 128599005
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Congenital anomaly of nervous system 88425004
Congenital anomaly of cardiovascular structure of trunk 363028003
Congenital anomaly of thorax 363035006
Congenital abnormality of oral cavity 282041002
Congenital anomaly of digit 403855001
Genetic disease 782964007
Ectodermal dysplasia 8654005
Disorder of nervous system 118940003
Heart disease 56265001
Multiple malformation syndrome with limb defect as major feature 41443008
Central nervous system finding 246556002
Oral cavity finding 116337000
Disorder of digit 128597007
Genodermatosis 239001006
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial defects as major feature 65094009
Congenital anomaly of cardiovascular system 9904008
Congenital anomaly of upper trunk 363037003
Congenital anomaly of mouth 128334002
Congenital ectodermal defect 254154003
Cardiac finding 301095005
Multiple system malformation syndrome 82354003
Congenital anomaly of trunk 78626001
Disorder of mediastinum 49483002
Disorder of limb 128605003
Congenital anomaly of skin 199879009
Congenital anomaly of face 398302004
Disease of mouth 118938008
Congenital cardiovascular disorder 762228008
Congenital malformation of upper alimentary tract 275262008
Disorder of embryonic structure 609521009
Congenital malformation syndrome 400038003
Disorder of thorax 118946009
Disorder of cardiovascular system 49601007
Mediastinal finding 301296002
Viscus structure finding 406123005
Finding of mouth region 423066003
Finding of limb structure 302293008
Congenital anomaly of integument 38164009
Disorder of face 118930001
Disorder of skin 95320005
Congenital anomaly of head 87290003
Disorder of upper digestive tract 50410009
Congenital anomaly of digestive tract 95470009
Cardiovascular finding 106063007
Finding of region of thorax 298705000
Disorder of head 118934005
Disorder of thoracic segment of trunk 609622007
Skin finding 106076001
Finding of face 301310005
Disorder of digestive tract 84410009
Disorder of skin and/or subcutaneous tissue 80659006
Congenital anomaly of digestive system 69518005
Congenital malformation 276654001
Disorder of trunk 128121009
Finding of upper trunk 609623002
Finding of head region 298364001
Disorder of integument 128598002
Disorder of digestive system 53619000
Skin AND/OR mucosa finding 415531008
Disorder of soft tissue 19660004
Disorder of body system 362965005
Developmental disorder 5294002
Finding of trunk structure 302292003
Head finding 406122000
Integumentary system finding 106077005
Congenital disease 66091009
Digestive system finding 386617003
General finding of soft tissue 248402002
Disease 64572001
Finding of head and neck region 118254002
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Central nervous system finding 246556002

Disorder of the central nervous system 23853001

Congenital anomaly of central nervous system 128124001

Oro-facial digital syndrome type 12 763834000

SNOMED CT code