Langer-Giedion syndrome 41069008

SNOMED CT code

SNOMED code

41069008

name

Langer-Giedion syndrome

status

active

date introduced

2002-01-31

fully specified name(s)

Langer-Giedion syndrome (disorder)

synonyms

Trichorhinophalangeal syndrome II
TRPS II - Trichorhinophalangeal syndrome II
Langer-Giedion syndrome
Trichorhinophalangeal syndrome with exostosis

attributes - group1

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Bone structure of extremity 48566001

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

parents

Trichorhinophalangeal syndrome 18077009
Disorder characterized by multiple exostoses 410063006
Congenital anomaly of skeletal bone 8447006

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
Trichorhinophalangeal syndrome 18077009
Langer-Giedion syndrome 41069008

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Bone finding 118953000
Disorder of bone 76069003
Disorder characterized by multiple exostoses 410063006
Langer-Giedion syndrome 41069008

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Disorder of bone development 371521007
Congenital anomaly of skeletal bone 8447006
Langer-Giedion syndrome 41069008

ancestors

sorted most to least specific

Trichorhinophalangeal syndrome 18077009
Disorder characterized by multiple exostoses 410063006
Congenital anomaly of skeletal bone 8447006
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Disorder of bone development 371521007
Congenital anomaly of musculoskeletal system 73573004
Multiple malformation syndrome with limb defect as major feature 41443008
Disorder of bone 76069003
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial defects as major feature 65094009
Multiple system malformation syndrome 82354003
Bone finding 118953000
Disorder of limb 128605003
Congenital anomaly of face 398302004
Disorder of skeletal system 88230002
Congenital malformation syndrome 400038003
Finding of limb structure 302293008
Disorder of face 118930001
Disorder of musculoskeletal system 928000
Congenital anomaly of head 87290003
Congenital malformation 276654001
Musculoskeletal finding 106028002
Disorder of head 118934005
Finding of face 301310005
Disorder of body system 362965005
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

Trichorhinophalangeal syndrome 18077009

Langer-Giedion syndrome 41069008

SNOMED CT code