Simpson-Golabi-Behmel syndrome 439143004

SNOMED CT code

SNOMED code

439143004

name

Simpson-Golabi-Behmel syndrome

status

active

date introduced

2009-01-31

fully specified name(s)

Simpson-Golabi-Behmel syndrome (disorder)

synonyms

Bulldog syndrome
Simpson-Golabi-Behmel syndrome

attributes - group1

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

parents

X-linked recessive hereditary disease 1162976004
Developmental hereditary disorder 363070008
Multiple malformation syndrome with early overgrowth 48637007
Multiple malformation syndrome with facial defects as major feature 65094009
Hereditary cancer-predisposing syndrome 699346009

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Sex-linked hereditary disorder 82852009
X-linked hereditary disease 128430005
X-linked recessive hereditary disease 1162976004
Simpson-Golabi-Behmel syndrome 439143004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Simpson-Golabi-Behmel syndrome 439143004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Congenital malformation 276654001
Congenital malformation syndrome 400038003
Multiple system malformation syndrome 82354003
Multiple malformation syndrome with early overgrowth 48637007
Simpson-Golabi-Behmel syndrome 439143004

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
Simpson-Golabi-Behmel syndrome 439143004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Hereditary cancer-predisposing syndrome 699346009
Simpson-Golabi-Behmel syndrome 439143004

ancestors

sorted most to least specific

X-linked recessive hereditary disease 1162976004
Developmental hereditary disorder 363070008
Multiple malformation syndrome with early overgrowth 48637007
Multiple malformation syndrome with facial defects as major feature 65094009
Hereditary cancer-predisposing syndrome 699346009
X-linked hereditary disease 128430005
Multiple system malformation syndrome 82354003
Congenital anomaly of face 398302004
Sex-linked hereditary disorder 82852009
Congenital malformation syndrome 400038003
Disorder of face 118930001
Congenital anomaly of head 87290003
Hereditary disease 32895009
Congenital malformation 276654001
Disorder of head 118934005
Finding of face 301310005
Genetic disease 782964007
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

Disease 64572001

Genetic disease 782964007

Hereditary disease 32895009

Sex-linked hereditary disorder 82852009

X-linked hereditary disease 128430005

X-linked recessive hereditary disease 1162976004

Simpson-Golabi-Behmel syndrome 439143004

SNOMED CT code