Oro-facial digital syndrome type 11 718681002

SNOMED CT code

SNOMED code

718681002

name

Oro-facial digital syndrome type 11

status

active

date introduced

2017-01-31

fully specified name(s)

Oro-facial digital syndrome type 11 (disorder)

synonyms

Oro-facial digital syndrome type 11
Oral-facial-digital syndrome type 11
Orofaciodigital syndrome type 11
Oral-facial-digital syndrome Gabrielli type
Orofaciodigital syndrome Gabrielli type

attributes - group1

Finding site

Heart structure 80891009

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

attributes - group5

Finding site

Skin structure 39937001

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

attributes - group3

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Face structure 89545001

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

attributes - group4

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

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

Structure of internal part of mouth 700016008

attributes - group8

Associated morphology

Dysplasia 25723000

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Ectoderm structure 63206006

attributes - group6

Finding site

Auditory structure 91159003

attributes - group7

Interprets

Hearing 47078008

parents

Intellectual disability 110359009
Congenital heart disease 13213009
Hearing loss 15188001
Oral-facial-digital syndrome 52868006
Congenital hearing disorder 95827002

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Mental disorder 74732009
Developmental mental disorder 129104009
Intellectual disability 110359009
Oro-facial digital syndrome type 11 718681002

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 11 718681002

SNOMED CT Concept 138875005
Clinical finding 404684003
Clinical history and observation findings 250171008
Functional finding 118228005
Hearing finding 118230007
Hearing disorder 128540005
Hearing loss 15188001
Oro-facial digital syndrome type 11 718681002

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 11 718681002

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Congenital hearing disorder 95827002
Oro-facial digital syndrome type 11 718681002

ancestors

sorted most to least specific

Hearing loss 15188001
Oral-facial-digital syndrome 52868006
Intellectual disability 110359009
Congenital heart disease 13213009
Congenital hearing disorder 95827002
Congenital anomaly of thorax 363035006
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Congenital abnormality of oral cavity 282041002
Developmental mental disorder 129104009
Congenital anomaly of digit 403855001
Ectodermal dysplasia 8654005
Hearing disorder 128540005
Congenital anomaly of cardiovascular structure of trunk 363028003
Structural disorder of heart 128599005
Mental disorder 74732009
Heart disease 56265001
Disorder of auditory system 362966006
Congenital anomaly of mouth 128334002
Congenital anomaly of cardiovascular system 9904008
Congenital anomaly of upper trunk 363037003
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial defects as major feature 65094009
Oral cavity finding 116337000
Neurodevelopmental disorder 700364009
Congenital ectodermal defect 254154003
Hearing finding 118230007
Genodermatosis 239001006
Multiple malformation syndrome with limb defect as major feature 41443008
Disorder of digit 128597007
Disorder of mediastinum 49483002
Congenital anomaly of skin 199879009
Ear and auditory finding 118236001
Disorder of embryonic structure 609521009
Congenital malformation of upper alimentary tract 275262008
Cardiac finding 301095005
Congenital anomaly of face 398302004
Disorder of extremity 128605003
Congenital cardiovascular disorder 762228008
Congenital anomaly of trunk 78626001
Disease of mouth 118938008
Functional finding 118228005
Multiple system malformation syndrome 82354003
Congenital anomaly of head 87290003
Disorder of skin 95320005
Disorder of upper digestive tract 50410009
Disorder of face 118930001
Congenital anomaly of digestive tract 95470009
Congenital anomaly of integument 38164009
Finding of limb structure 302293008
Finding of mouth region 423066003
Congenital malformation syndrome 400038003
Disorder of thorax 118946009
Disorder of cardiovascular system 49601007
Clinical history and observation findings 250171008
Mediastinal finding 301296002
Viscus structure finding 406123005
Disorder of thoracic segment of trunk 609622007
Cardiovascular finding 106063007
Disorder of skin and/or subcutaneous tissue 80659006
Disorder of digestive tract 84410009
Skin finding 106076001
Finding of face 301310005
Finding of region of thorax 298705000
Congenital anomaly of digestive system 69518005
Mouth and pharynx finding 249376008
Disorder of head 118934005
Disorder of soft tissue 19660004
Disorder of integument 128598002
Congenital malformation 276654001
Disorder of digestive system 53619000
Finding of upper trunk 609623002
Disorder of trunk 128121009
Finding of head region 298364001
Skin AND/OR mucosa finding 415531008
General finding of soft tissue 248402002
Developmental disorder 5294002
Head finding 406122000
Finding of trunk structure 302292003
Disorder of body system 362965005
Congenital disease 66091009
Digestive system finding 386617003
Integumentary system finding 106077005
Disorder by body site 123946008
Finding of head and neck region 118254002
Finding of body region 301857004
Disease 64572001
Finding by site 118234003
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Mental disorder 74732009

Developmental mental disorder 129104009

Intellectual disability 110359009

Oro-facial digital syndrome type 11 718681002

SNOMED CT code