Oro-facial digital syndrome type 13 763835004

SNOMED CT code

SNOMED code

763835004

name

Oro-facial digital syndrome type 13

status

active

date introduced

2018-07-31

fully specified name(s)

Oro-facial digital syndrome type 13 (disorder)

synonyms

Orofaciodigital syndrome type 13
Degner syndrome
Oro-facial digital syndrome type 13

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

attributes - group3

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Digit structure 82680008

attributes - group5

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Skin structure 39937001

Occurrence

Congenital 255399007

attributes - group4

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Heart structure 80891009

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 - group6

Pathological process

Pathological developmental process 308490002

Associated morphology

Dysplasia 25723000

Occurrence

Congenital 255399007

Finding site

Ectoderm structure 63206006

parents

Congenital heart disease 13213009
Oral-facial-digital syndrome 52868006

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding by site 118234003
Cardiovascular finding 106063007
Cardiac finding 301095005
Heart disease 56265001
Structural disorder of heart 128599005
Congenital heart disease 13213009
Oro-facial digital syndrome type 13 763835004

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding by site 118234003
Disorder by body site 123946008
Disorder of extremity 128605003
Disorder of digit 128597007
Congenital anomaly of digit 403855001
Oral-facial-digital syndrome 52868006
Oro-facial digital syndrome type 13 763835004

ancestors

sorted most to least specific

Oral-facial-digital syndrome 52868006
Congenital heart disease 13213009
Congenital anomaly of cardiovascular structure of trunk 363028003
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Congenital abnormality of oral cavity 282041002
Congenital anomaly of digit 403855001
Congenital anomaly of thorax 363035006
Ectodermal dysplasia 8654005
Structural disorder of heart 128599005
Congenital anomaly of limb 60475009
Heart disease 56265001
Genodermatosis 239001006
Congenital anomaly of cardiovascular system 9904008
Oral cavity finding 116337000
Disorder of digit 128597007
Multiple malformation syndrome with facial defects as major feature 65094009
Congenital anomaly of upper trunk 363037003
Congenital anomaly of mouth 128334002
Multiple malformation syndrome with limb defect as major feature 41443008
Congenital ectodermal defect 254154003
Disease of mouth 118938008
Congenital cardiovascular disorder 762228008
Multiple system malformation syndrome 82354003
Disorder of extremity 128605003
Cardiac finding 301095005
Congenital anomaly of skin 199879009
Congenital malformation of upper alimentary tract 275262008
Congenital anomaly of face 398302004
Disorder of mediastinum 49483002
Disorder of embryonic structure 609521009
Congenital anomaly of trunk 78626001
Disorder of face 118930001
Disorder of skin 95320005
Congenital anomaly of integument 38164009
Congenital anomaly of head 87290003
Finding of mouth region 423066003
Congenital malformation syndrome 400038003
Congenital anomaly of digestive tract 95470009
Disorder of thorax 118946009
Disorder of cardiovascular system 49601007
Disorder of upper digestive tract 50410009
Finding of limb structure 302293008
Viscus structure finding 406123005
Mediastinal finding 301296002
Disorder of skin and/or subcutaneous tissue 80659006
Disorder of thoracic segment of trunk 609622007
Congenital anomaly of digestive system 69518005
Skin finding 106076001
Cardiovascular finding 106063007
Disorder of digestive tract 84410009
Finding of face 301310005
Finding of region of thorax 298705000
Mouth and pharynx finding 249376008
Disorder of head 118934005
Disorder of soft tissue 19660004
Skin AND/OR mucosa finding 415531008
Disorder of digestive system 53619000
Disorder of integument 128598002
Finding of upper trunk 609623002
Finding of head region 298364001
Congenital malformation 276654001
Disorder of trunk 128121009
Developmental disorder 5294002
Digestive system finding 386617003
General finding of soft tissue 248402002
Finding of trunk structure 302292003
Disorder of body system 362965005
Head finding 406122000
Congenital disease 66091009
Integumentary system finding 106077005
Disorder by body site 123946008
Finding of head and neck region 118254002
Disease 64572001
Finding of body region 301857004
Finding by site 118234003
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Finding by site 118234003

Cardiovascular finding 106063007

Cardiac finding 301095005

Heart disease 56265001

Structural disorder of heart 128599005

Congenital heart disease 13213009

Oro-facial digital syndrome type 13 763835004

SNOMED CT code