Orofacial-digital syndrome IV 239031000

SNOMED CT code

SNOMED code

239031000

name

Orofacial-digital syndrome IV

status

active

date introduced

2002-01-31

fully specified name(s)

Orofacial-digital syndrome IV (disorder)

synonyms

OFD IV - Orofacial-digital syndrome IV
Orofacial-digital syndrome IV
Orofaciodigital syndrome type 4
Oral-facial-digital syndrome type 4
Baraitser Burn syndrome
Mohr Majewski syndrome

attributes - group3

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Digit structure 82680008

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

attributes - group2

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Face structure 89545001

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Structure of internal part of mouth 700016008

Occurrence

Congenital 255399007

attributes - group5

Pathological process

Pathological developmental process 308490002

Associated morphology

Dysplasia 25723000

Occurrence

Congenital 255399007

Finding site

Ectoderm structure 63206006

attributes - group4

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Skin structure 39937001

parents

Developmental hereditary disorder 363070008
Digestive system hereditary disorder 363080007
Hereditary disorder of the integument 363185004
Oral-facial-digital syndrome 52868006
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Orofacial-digital syndrome IV 239031000

SNOMED CT Concept 138875005
Clinical finding 404684003
Digestive system finding 386617003
Disorder of digestive system 53619000
Digestive system hereditary disorder 363080007
Orofacial-digital syndrome IV 239031000

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Disorder of integument 128598002
Hereditary disorder of the integument 363185004
Orofacial-digital syndrome IV 239031000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Oral-facial-digital syndrome 52868006
Orofacial-digital syndrome IV 239031000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Orofacial-digital syndrome IV 239031000

ancestors

sorted most to least specific

Developmental hereditary disorder 363070008
Digestive system hereditary disorder 363080007
Hereditary disorder of the integument 363185004
Oral-facial-digital syndrome 52868006
Autosomal recessive hereditary disorder 85995004
Hereditary disorder by system 363137000
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Autosomal hereditary disorder 1899006
Congenital abnormality of oral cavity 282041002
Congenital anomaly of digit 403855001
Ectodermal dysplasia 8654005
Hereditary disease 32895009
Multiple malformation syndrome with limb defect as major feature 41443008
Oral cavity finding 116337000
Disorder of digit 128597007
Genodermatosis 239001006
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial defects as major feature 65094009
Congenital anomaly of mouth 128334002
Congenital ectodermal defect 254154003
Genetic disease 782964007
Multiple system malformation syndrome 82354003
Disorder of limb 128605003
Congenital anomaly of skin 199879009
Congenital anomaly of face 398302004
Disease of mouth 118938008
Congenital malformation of upper alimentary tract 275262008
Disorder of embryonic structure 609521009
Congenital malformation syndrome 400038003
Finding of mouth region 423066003
Finding of limb structure 302293008
Congenital anomaly of integument 38164009
Disorder of face 118930001
Disorder of skin 95320005
Congenital anomaly of head 87290003
Disorder of upper digestive tract 50410009
Congenital anomaly of digestive tract 95470009
Disorder of head 118934005
Skin finding 106076001
Finding of face 301310005
Disorder of digestive tract 84410009
Disorder of skin and/or subcutaneous tissue 80659006
Congenital anomaly of digestive system 69518005
Disorder of integument 128598002
Congenital malformation 276654001
Disorder of digestive system 53619000
Finding of head region 298364001
Skin AND/OR mucosa finding 415531008
Disorder of soft tissue 19660004
Integumentary system finding 106077005
Developmental disorder 5294002
Disorder of body system 362965005
Head finding 406122000
Congenital disease 66091009
Digestive system finding 386617003
General finding of soft tissue 248402002
Disease 64572001
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

Developmental disorder 5294002

Developmental hereditary disorder 363070008

Orofacial-digital syndrome IV 239031000

SNOMED CT code