Acrocraniofacial dysostosis 720418008

SNOMED CT code

SNOMED code

720418008

name

Acrocraniofacial dysostosis

status

active

date introduced

2017-01-31

fully specified name(s)

Acrocraniofacial dysostosis (disorder)

synonyms

Acrocraniofacial dysostosis
Kaplan Plauchu Fitch syndrome

attributes - group2

Occurrence

Congenital 255399007

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Finding site

Face structure 89545001

attributes - group1

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Limb structure 66019005

attributes - group3

Pathological process

Pathological developmental process 308490002

Associated morphology

Dysplasia 25723000

Occurrence

Congenital 255399007

Finding site

Bone structure of cranium 89546000

parents

Dysostosis of bone of skull 128219005
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of head 118934005
Disorder of skull 118945008
Congenital anomaly of skull 51655004
Dysostosis of bone of skull 128219005
Acrocraniofacial dysostosis 720418008

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
Acrocraniofacial dysostosis 720418008

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Acrocraniofacial dysostosis 720418008

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Disorder of musculoskeletal system 928000
Hereditary disorder of musculoskeletal system 363212003
Acrocraniofacial dysostosis 720418008

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Acrocraniofacial dysostosis 720418008

ancestors

sorted most to least specific

Dysostosis of bone of skull 128219005
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Autosomal recessive hereditary disorder 85995004
Dysostosis 109420003
Multiple malformation syndrome with limb defect as major feature 41443008
Hereditary disorder by system 363137000
Autosomal hereditary disorder 1899006
Congenital anomaly of skull 51655004
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial defects as major feature 65094009
Skeletal dysplasia 105986008
Multiple system malformation syndrome 82354003
Hereditary disease 32895009
Disorder of skull 118945008
Disorder of limb 128605003
Congenital anomaly of face 398302004
Congenital abnormality of skull and face bones 268239009
Congenital malformation syndrome 400038003
Genetic disease 782964007
Congenital anomaly of skeletal bone 8447006
Finding of limb structure 302293008
Disorder of face 118930001
Skull finding 248369007
Congenital anomaly of head 87290003
Congenital anomaly of musculoskeletal system 73573004
Disorder of head 118934005
Disorder of bone development 371521007
Finding of face 301310005
Congenital malformation 276654001
Disorder of bone 76069003
Finding of head region 298364001
Developmental disorder 5294002
Head finding 406122000
Disorder of skeletal system 88230002
Congenital disease 66091009
Bone finding 118953000
Finding of head and neck region 118254002
Disorder of musculoskeletal system 928000
Musculoskeletal finding 106028002
Disorder of body system 362965005
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Disorder of head 118934005

Disorder of skull 118945008

Congenital anomaly of skull 51655004

Dysostosis of bone of skull 128219005

Acrocraniofacial dysostosis 720418008

SNOMED CT code