Oral-facial-digital syndrome with short stature and brachymesophalangia 1177179002

SNOMED CT code

SNOMED code

1177179002

name

Oral-facial-digital syndrome with short stature and brachymesophalangia

status

active

date introduced

2021-10-31

fully specified name(s)

Oral-facial-digital syndrome with short stature and brachymesophalangia (disorder)

synonyms

OFD18 - oral-facial-digital syndrome type 18
Orofaciodigital syndrome type 18
Oral-facial-digital syndrome with short stature and brachymesophalangia

attributes - group5

Interprets

Body height measure 50373000

Has interpretation

Below reference range 281300000

attributes - group1

Occurrence

Congenital 255399007

Finding site

Entire middle phalanx 299710007

Associated morphology

Abnormally short growth 11182007

Pathological process

Pathological developmental process 308490002

attributes - group2

Occurrence

Congenital 255399007

Finding site

Ectoderm structure 63206006

Associated morphology

Dysplasia 25723000

Pathological process

Pathological developmental process 308490002

attributes - group3

Occurrence

Congenital 255399007

Finding site

Structure of internal part of mouth 700016008

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

attributes - group4

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

attributes - group6

Occurrence

Congenital 255399007

Finding site

Skin structure 39937001

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

parents

Brachymesophalangia 205317004
Short stature disorder 237836003
Oral-facial-digital syndrome 52868006

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Deformity 417893002
Deformation of bone 298356007
Brachyphalangia 38998004
Brachymesophalangia 205317004
Oral-facial-digital syndrome with short stature and brachymesophalangia 1177179002

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of general physiological development 271616002
Disorder of stature 237834000
Short stature disorder 237836003
Oral-facial-digital syndrome with short stature and brachymesophalangia 1177179002

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Oral-facial-digital syndrome 52868006
Oral-facial-digital syndrome with short stature and brachymesophalangia 1177179002

ancestors

sorted most to least specific

Brachymesophalangia 205317004
Short stature disorder 237836003
Oral-facial-digital syndrome 52868006
Brachyphalangia 38998004
Disorder of stature 237834000
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Congenital abnormality of oral cavity 282041002
Genetic disease 782964007
Ectodermal dysplasia 8654005
Deformation of bone 298356007
General finding of height 248327008
Multiple malformation syndrome with limb defect as major feature 41443008
Brachydactyly 43476002
Congenital anomaly of skeletal bone 8447006
Finding of general physiological development 271616002
Oral cavity finding 116337000
Genodermatosis 239001006
Multiple malformation syndrome with facial defects as major feature 65094009
Congenital anomaly of mouth 128334002
Congenital ectodermal defect 254154003
Height / growth finding 365714001
Multiple system malformation syndrome 82354003
Longitudinal deficiency of part of limb 716638009
Disorder of bone development 371521007
Congenital anomaly of skin 199879009
Congenital anomaly of face 398302004
Congenital abnormal shape of digit 92907008
Congenital anomaly of musculoskeletal system 73573004
Disease of mouth 118938008
Congenital malformation of upper alimentary tract 275262008
Disorder of embryonic structure 609521009
Body measurement finding 365605003
Congenital malformation syndrome 400038003
Congenital deformity 276655000
Finding of mouth region 423066003
Congenital anomaly of digit 403855001
Congenital anomaly of integument 38164009
Disorder of face 118930001
Deformity of limb 445144002
Disorder of bone 76069003
Disorder of skin 95320005
Congenital anomaly of head 87290003
Disorder of upper digestive tract 50410009
Congenital anomaly of digestive tract 95470009
Bone finding 118953000
Deformity 417893002
Disorder of digit 128597007
Congenital anomaly of limb 60475009
Disorder of head 118934005
Skin finding 106076001
Finding of face 301310005
Disorder of skeletal system 88230002
Disorder of digestive tract 84410009
Disorder of skin and/or subcutaneous tissue 80659006
Congenital anomaly of digestive system 69518005
Congenital malformation 276654001
Finding of head region 298364001
Disorder of limb 128605003
Disorder of integument 128598002
Disorder of musculoskeletal system 928000
Disorder of digestive system 53619000
Skin AND/OR mucosa finding 415531008
Disorder of soft tissue 19660004
Musculoskeletal finding 106028002
Developmental disorder 5294002
Head finding 406122000
Finding of limb structure 302293008
Integumentary system finding 106077005
Congenital disease 66091009
Digestive system finding 386617003
Disorder of body system 362965005
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

Deformity 417893002

Deformation of bone 298356007

Brachyphalangia 38998004

Brachymesophalangia 205317004

Oral-facial-digital syndrome with short stature and brachymesophalangia 1177179002

SNOMED CT code