Acrocephalopolydactyly 720417003

SNOMED CT code

SNOMED code

720417003

name

Acrocephalopolydactyly

status

active

date introduced

2017-01-31

fully specified name(s)

Acrocephalopolydactyly (disorder)

synonyms

Acrocephalopolydactyly
Acrocephalopolydactylous dysplasia
Elejalde syndrome

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

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

Limb structure 66019005

parents

Multiple malformation syndrome with facial-limb defects as major feature 23359005
Developmental hereditary disorder 363070008
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

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
Acrocephalopolydactyly 720417003

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Acrocephalopolydactyly 720417003

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Acrocephalopolydactyly 720417003

ancestors

sorted most to least specific

Multiple malformation syndrome with facial-limb defects as major feature 23359005
Developmental hereditary disorder 363070008
Autosomal recessive hereditary disorder 85995004
Multiple malformation syndrome with limb defect as major feature 41443008
Autosomal hereditary disorder 1899006
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial defects as major feature 65094009
Multiple system malformation syndrome 82354003
Hereditary disease 32895009
Disorder of limb 128605003
Congenital anomaly of face 398302004
Congenital malformation syndrome 400038003
Genetic disease 782964007
Finding of limb structure 302293008
Disorder of face 118930001
Congenital anomaly of head 87290003
Congenital malformation 276654001
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

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

Acrocephalopolydactyly 720417003

SNOMED CT code