Oro-facial digital syndrome type 1 763833006

SNOMED CT code

SNOMED code

763833006

name

Oro-facial digital syndrome type 1

status

active

date introduced

2018-07-31

fully specified name(s)

Oro-facial digital syndrome type 1 (disorder)

synonyms

Orofaciodigital syndrome type 1
Oro-facial digital syndrome type 1
Papillon Léage Psaume syndrome

attributes - group1

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 - group3

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Digit structure 82680008

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

attributes - group4

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Skin structure 39937001

attributes - group5

Pathological process

Pathological developmental process 308490002

Associated morphology

Dysplasia 25723000

Occurrence

Congenital 255399007

Finding site

Ectoderm structure 63206006

parents

Oral-facial-digital syndrome 52868006

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Oral-facial-digital syndrome 52868006
Oro-facial digital syndrome type 1 763833006

ancestors

sorted most to least specific

Oral-facial-digital syndrome 52868006
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Congenital abnormality of oral cavity 282041002
Congenital anomaly of digit 403855001
Genetic disease 782964007
Ectodermal dysplasia 8654005
Multiple malformation syndrome with limb defect as major feature 41443008
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 mouth 128334002
Congenital ectodermal defect 254154003
Multiple system malformation syndrome 82354003
Disorder of limb 128605003
Congenital anomaly of skin 199879009
Congenital anomaly of face 398302004
Disease of mouth 118938008
Congenital malformation of upper alimentary tract 275262008
Disorder of embryonic structure 609521009
Congenital malformation syndrome 400038003
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
Disorder of head 118934005
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
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
Developmental disorder 5294002
Head finding 406122000
Integumentary system finding 106077005
Congenital disease 66091009
Digestive system finding 386617003
Disorder of body system 362965005
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

Disease 64572001

Genetic disease 782964007

Oral-facial-digital syndrome 52868006

Oro-facial digital syndrome type 1 763833006

SNOMED CT code