Ohdo syndrome, Maat-Kievit-Brunner type 699297004

SNOMED CT code

SNOMED code

699297004

name

Ohdo syndrome, Maat-Kievit-Brunner type

status

active

date introduced

2014-01-31

fully specified name(s)

Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder)

synonyms

Ohdo syndrome, Maat-Kievit-Brunner type
Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type
X-linked Ohdo syndrome
Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Deformity 6081001

Occurrence

Congenital 255399007

Finding site

Eyelid structure 80243003

attributes - group3

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Narrowed structure 25659002

Finding site

Structure of palpebral fissure 595000

attributes - group1

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group4

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

parents

X-linked hereditary disease 128430005
Developmental hereditary disorder 363070008
Hereditary disorder of the visual system 363343008
Blepharophimosis, intellectual disability syndrome 788584007

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Sex-linked hereditary disorder 82852009
X-linked hereditary disease 128430005
Ohdo syndrome, Maat-Kievit-Brunner type 699297004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Ohdo syndrome, Maat-Kievit-Brunner type 699297004

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Visual system disorder 128127008
Hereditary disorder of the visual system 363343008
Ohdo syndrome, Maat-Kievit-Brunner type 699297004

SNOMED CT Concept 138875005
Clinical finding 404684003
Deformity 417893002
Deformity of eyelid 430960001
Blepharophimosis, intellectual disability syndrome 788584007
Ohdo syndrome, Maat-Kievit-Brunner type 699297004

ancestors

sorted most to least specific

X-linked hereditary disease 128430005
Developmental hereditary disorder 363070008
Hereditary disorder of the visual system 363343008
Blepharophimosis, intellectual disability syndrome 788584007
Sex-linked hereditary disorder 82852009
Intellectual disability 110359009
Hereditary disorder by system 363137000
Congenital deformity of face 398206004
Deformity of eyelid 430960001
Multiple malformation syndrome with facial defects as major feature 65094009
Congenital blepharophimosis 93040009
Hereditary disease 32895009
Intellectual ability - finding 365814006
Congenital deformity 276655000
Narrowing of palpebral fissure 370116005
Impaired cognition 386806002
Neurodevelopmental disorder 700364009
Behavior finding 844005
Multiple system malformation syndrome 82354003
Congenital anomaly of eyelid 91158006
Genetic disease 782964007
Intelligence finding 106137004
Deformity 417893002
Congenital anomaly of face 398302004
Lesion of eyelid 301913002
Cognitive function finding 373930000
Mental state, behavior and/or psychosocial function finding 384821006
Congenital malformation syndrome 400038003
Congenital anomaly of ocular adnexa 128327004
Palpebral fissure finding 386656009
Functional finding 118228005
Disorder of eyelid 60113004
Congenital anomaly of head 87290003
Lesion of face 767811005
Congenital anomaly of visual system 127329003
Congenital malformation 276654001
Disorder of face 118930001
Disorder of ocular adnexa 118941004
Eyelid finding 246812007
Developmental disorder 5294002
Congenital disease 66091009
Finding of face 301310005
Disorder of eye region 371409005
Visual system disorder 128127008
Disorder of head 118934005
Finding of head region 298364001
Eye / vision finding 118235002
Disorder of body system 362965005
Head finding 406122000
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

Genetic disease 782964007

Hereditary disease 32895009

Sex-linked hereditary disorder 82852009

X-linked hereditary disease 128430005

Ohdo syndrome, Maat-Kievit-Brunner type 699297004

SNOMED CT code