Freeman-Sheldon syndrome 52616002

SNOMED CT code

SNOMED code

52616002

name

Freeman-Sheldon syndrome

status

active

date introduced

2002-01-31

fully specified name(s)

Freeman-Sheldon syndrome (disorder)

synonyms

Distal arthrogryposis type 2A
Freeman-Sheldon syndrome
Whistling face syndrome

attributes - group1

Pathological process

Pathological developmental process 308490002

Finding site

Structure of joint region 785818007

Occurrence

Congenital 255399007

Associated morphology

Contracture 57048009

attributes - group2

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Bone structure of face 91397008

attributes - group3

Has interpretation

Decreased 1250004

Interprets

Range of joint movement 364564000

parents

Distal arthrogryposis syndrome 24269006
Congenital anomaly of face bones 32003007
Multiple malformation syndrome with facial defects as major feature 65094009

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Deformity 417893002
Congenital deformity 276655000
Arthrogryposis 111246005
Distal arthrogryposis syndrome 24269006
Freeman-Sheldon syndrome 52616002

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Bone finding 118953000
Facial bone finding 248398006
Disorder of facial bone 128225009
Congenital anomaly of face bones 32003007
Freeman-Sheldon syndrome 52616002

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
Freeman-Sheldon syndrome 52616002

ancestors

sorted most to least specific

Distal arthrogryposis syndrome 24269006
Congenital anomaly of face bones 32003007
Multiple malformation syndrome with facial defects as major feature 65094009
Arthrogryposis 111246005
Disorder of facial bone 128225009
Congenital anomaly of face 398302004
Congenital abnormality of skull and face bones 268239009
Multiple system malformation syndrome 82354003
Contracture of multiple joints 202264009
Disorder of face 118930001
Congenital deformity 276655000
Congenital anomaly of skeletal bone 8447006
Facial bone finding 248398006
Congenital malformation syndrome 400038003
Congenital anomaly of head 87290003
Contracture of joint 7890003
Disorder of head 118934005
Disorder of bone development 371521007
Finding of face 301310005
Congenital anomaly of musculoskeletal system 73573004
Deformity 417893002
Congenital malformation 276654001
Movement disorder 60342002
Limitation of joint movement 70733008
Disorder of joint region 785875003
Disorder of bone 76069003
Finding of head region 298364001
Head finding 406122000
Developmental disorder 5294002
Finding of range of joint movement 298180004
Bone finding 118953000
Congenital disease 66091009
Disorder of skeletal system 88230002
Finding of head and neck region 118254002
Finding of joint movement 298179002
Disorder of musculoskeletal system 928000
Finding of movement 298325004
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

Deformity 417893002

Congenital deformity 276655000

Arthrogryposis 111246005

Distal arthrogryposis syndrome 24269006

Freeman-Sheldon syndrome 52616002

SNOMED CT code