Ophthalmomandibulomelic dysplasia 715484003

SNOMED CT code

SNOMED code

715484003

name

Ophthalmomandibulomelic dysplasia

status

active

date introduced

2016-07-31

fully specified name(s)

Ophthalmomandibulomelic dysplasia (disorder)

synonyms

Ophthalmomandibulomelic dysplasia
Pillay syndrome
OMM (ophthalmomandibulomelic) syndrome

attributes - group2

Finding site

Face structure 89545001

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Morphologically abnormal structure 49755003

attributes - group1

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Dystrophy 4720007

Finding site

Corneal structure 28726007

attributes - group3

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Limb structure 66019005

parents

Congenital corneal dystrophy 1003408005
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Developmental hereditary disorder 363070008
Hereditary corneal dystrophy 77797009

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Degenerative disorder 362975008
Degenerative disorder of eye 62585004
Corneal degeneration 111521006
Corneal dystrophy 5587004
Congenital corneal dystrophy 1003408005
Ophthalmomandibulomelic dysplasia 715484003

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Disorder of limb 128605003
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Ophthalmomandibulomelic dysplasia 715484003

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Ophthalmomandibulomelic dysplasia 715484003

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Visual system disorder 128127008
Hereditary disorder of the visual system 363343008
Hereditary corneal dystrophy 77797009
Ophthalmomandibulomelic dysplasia 715484003

ancestors

sorted most to least specific

Congenital corneal dystrophy 1003408005
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Developmental hereditary disorder 363070008
Hereditary corneal dystrophy 77797009
Congenital anomaly of cornea 128352002
Multiple malformation syndrome with limb defect as major feature 41443008
Hereditary disorder of the visual system 363343008
Corneal dystrophy 5587004
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial defects as major feature 65094009
Multiple system malformation syndrome 82354003
Corneal degeneration 111521006
Congenital anomaly of anterior segment of eye 429448005
Disorder of limb 128605003
Congenital anomaly of face 398302004
Hereditary disorder by system 363137000
Disorder of cornea 15250008
Congenital malformation syndrome 400038003
Hereditary disease 32895009
Finding of limb structure 302293008
Disorder of face 118930001
Degenerative disorder of eye 62585004
Congenital anomaly of eye 19416009
Disorder of anterior segment of eye 128535002
Genetic disease 782964007
Corneal finding 246924004
Anomaly of eye 11131000119108
Congenital anomaly of head 87290003
Finding of face 301310005
Degenerative disorder 362975008
Congenital anomaly of visual system 127329003
Disorder of eye 371405004
Congenital malformation 276654001
Anterior segment finding 418727003
Disorder of sensory organ 1279550006
Developmental disorder 5294002
Globe finding 246915008
Disorder of eye region 371409005
Congenital disease 66091009
Visual system disorder 128127008
Disorder of head 118934005
Finding of head region 298364001
Eye / vision finding 118235002
Head finding 406122000
Disorder of body system 362965005
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

Degenerative disorder 362975008

Degenerative disorder of eye 62585004

Corneal degeneration 111521006

Corneal dystrophy 5587004

Congenital corneal dystrophy 1003408005

Ophthalmomandibulomelic dysplasia 715484003

SNOMED CT code