Acromegaloid facial appearance syndrome 720456009

SNOMED CT code

SNOMED code

720456009

name

Acromegaloid facial appearance syndrome

status

active

date introduced

2017-01-31

fully specified name(s)

Acromegaloid facial appearance syndrome (disorder)

synonyms

Acromegaloid facial appearance syndrome

attributes - group1

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Hand structure 85562004

parents

Autosomal dominant hereditary disorder 11164009
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Congenital anomaly of hand 34111000
Developmental hereditary disorder 363070008

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal dominant hereditary disorder 11164009
Acromegaloid facial appearance syndrome 720456009

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
Acromegaloid facial appearance syndrome 720456009

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Finding of upper limb 116307009
Finding of hand region 116311003
Disorder of hand 118933004
Congenital anomaly of hand 34111000
Acromegaloid facial appearance syndrome 720456009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Acromegaloid facial appearance syndrome 720456009

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Congenital anomaly of hand 34111000
Developmental hereditary disorder 363070008
Autosomal hereditary disorder 1899006
Multiple malformation syndrome with limb defect as major feature 41443008
Disorder of hand 118933004
Multiple malformation syndrome with facial defects as major feature 65094009
Congenital anomaly of upper limb 66510004
Hereditary disease 32895009
Multiple system malformation syndrome 82354003
Finding of hand region 116311003
Congenital anomaly of limb 60475009
Congenital anomaly of face 398302004
Disorder of upper limb 118947000
Genetic disease 782964007
Congenital malformation syndrome 400038003
Finding of upper limb 116307009
Disorder of limb 128605003
Disorder of face 118930001
Congenital anomaly of head 87290003
Congenital malformation 276654001
Finding of limb structure 302293008
Disorder of head 118934005
Finding of face 301310005
Developmental disorder 5294002
Congenital disease 66091009
Finding of head region 298364001
Disease 64572001
Head finding 406122000
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

Autosomal hereditary disorder 1899006

Autosomal dominant hereditary disorder 11164009

Acromegaloid facial appearance syndrome 720456009

SNOMED CT code