Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth 412787009

SNOMED CT code

SNOMED code

412787009

name

Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth

status

active

date introduced

2004-07-31

fully specified name(s)

Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)

synonyms

Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
Ohdo blepharophimosis syndrome
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Heart structure 80891009

attributes - group3

Pathological process

Pathological developmental process 308490002

Associated morphology

Narrowed structure 25659002

Finding site

Structure of palpebral fissure 595000

Occurrence

Congenital 255399007

attributes - group4

Pathological process

Pathological developmental process 308490002

Associated morphology

Deformity 6081001

Occurrence

Congenital 255399007

Finding site

Eyelid structure 80243003

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Hypoplasia 55199003

Finding site

Tooth structure 38199008

Occurrence

Congenital 255399007

parents

Congenital heart disease 13213009
Congenital anomaly of tooth 422977003
Blepharophimosis and mental retardation syndrome 788584007

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
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth 412787009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Disorder of tooth development 371136004
Congenital anomaly of tooth 422977003
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth 412787009

SNOMED CT Concept 138875005
Clinical finding 404684003
Deformity 417893002
Deformity of eyelid 430960001
Blepharophimosis and mental retardation syndrome 788584007
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth 412787009

ancestors

sorted most to least specific

Congenital anomaly of tooth 422977003
Blepharophimosis and mental retardation syndrome 788584007
Congenital heart disease 13213009
Congenital blepharophimosis 93040009
Congenital anomaly of cardiovascular structure of trunk 363028003
Intellectual disability 110359009
Congenital anomaly of thorax 363035006
Congenital abnormality of oral cavity 282041002
Congenital deformity of face 398206004
Multiple malformation syndrome with facial defects as major feature 65094009
Deformity of eyelid 430960001
Disorder of tooth development 371136004
Congenital anomaly of digestive organ 128332003
Structural disorder of heart 128599005
Narrowing of palpebral fissure 370116005
Congenital anomaly of cardiovascular system 9904008
Heart disease 56265001
Tooth disorder 234947003
Congenital deformity 276655000
Congenital anomaly of upper trunk 363037003
Congenital anomaly of eyelid 91158006
Developmental mental disorder 129104009
Multiple system malformation syndrome 82354003
Congenital anomaly of mouth 128334002
Congenital anomaly of ocular adnexa 128327004
Disorder of teeth AND/OR supporting structures 105995000
Palpebral fissure finding 386656009
Congenital malformation syndrome 400038003
Cardiac finding 301095005
Disorder of eyelid 60113004
Congenital cardiovascular disorder 762228008
Mental disorder 74732009
Lesion of eyelid 301913002
Tooth finding 278544002
Congenital anomaly of face 398302004
Deformity 417893002
Disorder of digestive organ 76712006
Congenital malformation of upper alimentary tract 275262008
Disorder of mediastinum 49483002
Congenital anomaly of trunk 78626001
Neurodevelopmental disorder 700364009
Disease of mouth 118938008
Lesion of face 767811005
Eyelid finding 246812007
Disorder of thorax 118946009
Congenital anomaly of visual system 127329003
Disorder of cardiovascular system 49601007
Disorder of face 118930001
Disorder of ocular adnexa 118941004
Mediastinal finding 301296002
Congenital anomaly of digestive tract 95470009
Congenital anomaly of head 87290003
Viscus structure finding 406123005
Oral cavity finding 116337000
Disorder of upper digestive tract 50410009
Finding of mouth region 423066003
Disorder of thoracic segment of trunk 609622007
Cardiovascular finding 106063007
Finding of face 301310005
Disorder of eye region 371409005
Congenital anomaly of digestive system 69518005
Finding of region of thorax 298705000
Congenital malformation 276654001
Disorder of digestive tract 84410009
Finding of upper trunk 609623002
Visual system disorder 128127008
Disorder of head 118934005
Mouth and pharynx finding 249376008
Disorder of trunk 128121009
Finding of head region 298364001
Congenital disease 66091009
Finding of trunk structure 302292003
Disorder of digestive system 53619000
Developmental disorder 5294002
Eye / vision finding 118235002
Head finding 406122000
Disorder of body system 362965005
Finding of head and neck region 118254002
Digestive system finding 386617003
Disorder by body site 123946008
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

Finding by site 118234003

Cardiovascular finding 106063007

Cardiac finding 301095005

Heart disease 56265001

Structural disorder of heart 128599005

Congenital heart disease 13213009

Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth 412787009

SNOMED CT code