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 - group9

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group10

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

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

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Mental state, behavior and/or psychosocial function finding 384821006
Behavior finding 844005
Intellectual disability 110359009
Oro-facial digital syndrome type 11 718681002

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 11 718681002

SNOMED CT Concept 138875005
Clinical finding 404684003
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
Disease 64572001
Genetic disease 782964007
Oral-facial-digital syndrome 52868006
Oro-facial digital syndrome type 11 718681002

ancestors

sorted most to least specific

Intellectual disability 110359009
Congenital heart disease 13213009
Hearing loss 15188001
Oral-facial-digital syndrome 52868006
Intellectual ability - finding 365814006
Structural disorder of heart 128599005
Hearing disorder 128540005
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Impaired cognition 386806002
Neurodevelopmental disorder 700364009
Behavior finding 844005
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
Intelligence finding 106137004
Heart disease 56265001
Hearing finding 118230007
Multiple malformation syndrome with limb defect as major feature 41443008
Cognitive function finding 373930000
Mental state, behavior and/or psychosocial function finding 384821006
Disorder of auditory system 362966006
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
Functional finding 118228005
Cardiac finding 301095005
Multiple system malformation syndrome 82354003
Congenital anomaly of trunk 78626001
Disorder of mediastinum 49483002
Ear and auditory finding 118236001
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
Developmental disorder 5294002
Finding of trunk structure 302292003
Head finding 406122000
Integumentary system finding 106077005
Congenital disease 66091009
Disorder of body system 362965005
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

Mental state, behavior and/or psychosocial function finding 384821006

Behavior finding 844005

Intellectual disability 110359009

Oro-facial digital syndrome type 11 718681002

SNOMED CT code