Blepharophimosis epicanthus inversus ptosis syndrome plus 890180006

SNOMED CT code

SNOMED code

890180006

name

Blepharophimosis epicanthus inversus ptosis syndrome plus

status

active

date introduced

2021-01-31

fully specified name(s)

Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder)

synonyms

3q23 microdeletion syndrome
Blepharophimosis epicanthus inversus ptosis syndrome plus
BPES (blepharophimosis epicanthus inversus ptosis syndrome) plus

attributes - group1

Finding site

Structure of palpebral fissure 595000

Occurrence

Congenital 255399007

Associated morphology

Narrowed structure 25659002

Pathological process

Pathological developmental process 308490002

attributes - group2

Finding site

Chromosome pair 3 113355002

Pathological process

Pathological developmental process 308490002

Associated morphology

Partial monosomy 371169004

Occurrence

Congenital 255399007

attributes - group3

Associated morphology

Deformity 6081001

Finding site

Skin structure of epicanthus inversus 715648002

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

attributes - group4

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Long arm of chromosome 312242007

Associated morphology

Partial monosomy 371169004

attributes - group5

Occurrence

Congenital 255399007

Finding site

Upper eyelid structure 38934000

Associated morphology

Prolapse 29696001

Pathological process

Pathological developmental process 308490002

parents

Blepharophimosis epicanthus inversus ptosis syndrome 715391004
Deletion of part of long arm of chromosome 3 726370000

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Deformity 417893002
Deformity of eyelid 430960001
Blepharophimosis epicanthus inversus ptosis syndrome 715391004
Blepharophimosis epicanthus inversus ptosis syndrome plus 890180006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Chromosomal disorder 409709004
Congenital chromosomal disease 74345006
Anomaly of chromosome pair 362984008
Anomaly of chromosome pair 3 13674001
Deletion of part of chromosome 3 726369001
Deletion of part of long arm of chromosome 3 726370000
Blepharophimosis epicanthus inversus ptosis syndrome plus 890180006

ancestors

sorted most to least specific

Blepharophimosis epicanthus inversus ptosis syndrome 715391004
Deletion of part of long arm of chromosome 3 726370000
Congenital anomaly of skin 199879009
Deletion of part of chromosome 3 726369001
Congenital ptosis 268163008
Congenital deformity of face 398206004
Epicanthus inversus 400956000
Dermatosis of eyelid 402700001
Deformity of eyelid 430960001
Congenital deformity of soft tissue 673791000119108
Congenital blepharophimosis 93040009
Congenital anomaly of integument 38164009
Anomaly of chromosome pair 3 13674001
Ptosis of eyelid 11934000
Congenital deformity 276655000
Epicanthus finding 386657000
Disorder of soft tissue of head 280131007
Narrowing of palpebral fissure 370116005
Deletion of part of autosome 254274004
Congenital anomaly of eyelid 91158006
Disorder of skin of head 400082007
Deformity of tissue 416499003
Deformity 417893002
Lesion of eyelid 301913002
Disorder of skin 95320005
Monosomy and deletion from autosome 205627002
Congenital anomaly of ocular adnexa 128327004
Congenital anomaly of face 398302004
Disorder of skin AND/OR subcutaneous tissue of head 128217007
Palpebral fissure finding 386656009
Anomaly of chromosome pair 362984008
Disorder of eyelid 60113004
Skin finding 106076001
Lesion of face 767811005
Disorder of skin and/or subcutaneous tissue 80659006
Congenital anomaly of visual system 127329003
Congenital anomaly of head 87290003
Disorder of integument 128598002
Congenital chromosomal disease 74345006
Disorder of face 118930001
Congenital malformation 276654001
Disorder of soft tissue 19660004
Disorder of ocular adnexa 118941004
Eyelid finding 246812007
Skin AND/OR mucosa finding 415531008
Integumentary system finding 106077005
Chromosomal disorder 409709004
Developmental disorder 5294002
General finding of soft tissue 248402002
Congenital disease 66091009
Disorder of eye region 371409005
Finding of face 301310005
Disorder of head 118934005
Finding of head region 298364001
Visual system disorder 128127008
Head finding 406122000
Disorder of body system 362965005
Eye / vision finding 118235002
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

Deformity 417893002

Deformity of eyelid 430960001

Blepharophimosis epicanthus inversus ptosis syndrome 715391004

Blepharophimosis epicanthus inversus ptosis syndrome plus 890180006

SNOMED CT code