Treacher Collins syndrome 82203000

SNOMED CT code

SNOMED code

82203000

name

Treacher Collins syndrome

status

active

date introduced

2002-01-31

fully specified name(s)

Treacher Collins syndrome (disorder)

synonyms

Treacher Collins syndrome
Mandibulofacial dysostosis
Franceschetti Klein 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

Finding site

Bone structure of cranium 89546000

Associated morphology

Dysplasia 25723000

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

parents

Dysostosis of bone of skull 128219005
Autosomal hereditary disorder 1899006
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Multiple malformation syndrome with facial defects as major feature 65094009

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
Treacher Collins syndrome 82203000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Treacher Collins syndrome 82203000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Treacher Collins syndrome 82203000

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Disorder of musculoskeletal system 928000
Hereditary disorder of musculoskeletal system 363212003
Treacher Collins syndrome 82203000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of head 118934005
Disorder of face 118930001
Congenital anomaly of face 398302004
Multiple malformation syndrome with facial defects as major feature 65094009
Treacher Collins syndrome 82203000

ancestors

sorted most to least specific

Dysostosis of bone of skull 128219005
Autosomal hereditary disorder 1899006
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Multiple malformation syndrome with facial defects as major feature 65094009
Dysostosis 109420003
Hereditary disorder by system 363137000
Congenital anomaly of face 398302004
Congenital anomaly of skull 51655004
Multiple system malformation syndrome 82354003
Skeletal dysplasia 105986008
Hereditary disease 32895009
Disorder of face 118930001
Disorder of skull 118945008
Congenital malformation syndrome 400038003
Congenital abnormality of skull and face bones 268239009
Genetic disease 782964007
Congenital anomaly of skeletal bone 8447006
Congenital anomaly of head 87290003
Finding of face 301310005
Skull finding 248369007
Congenital anomaly of musculoskeletal system 73573004
Disorder of head 118934005
Disorder of bone development 371521007
Finding of head region 298364001
Congenital malformation 276654001
Head finding 406122000
Disorder of bone 76069003
Developmental disorder 5294002
Finding of head and neck region 118254002
Disorder of skeletal system 88230002
Congenital disease 66091009
Bone finding 118953000
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

Treacher Collins syndrome 82203000

SNOMED CT code