Ectrodactyly-ectodermal dysplasia-clefting syndrome 39788007

SNOMED CT code

SNOMED code

39788007

name

Ectrodactyly-ectodermal dysplasia-clefting syndrome

status

active

date introduced

2002-01-31

fully specified name(s)

Ectrodactyly-ectodermal dysplasia-clefting syndrome (disorder)

synonyms

Ectodermal dysplasia with ectrodactyly and cleft lip or palate
Rudiger's syndrome
EEC - Ectodermal dysplasia with ectrodactyly and cleft lip or palate
Ectrodactyly-ectodermal dysplasia-clefting syndrome
EEC syndrome

attributes - group3

Pathological process

Pathological developmental process 308490002

Finding site

Entire digit 361367007

Associated morphology

Absence 418560003

Occurrence

Congenital 255399007

attributes - group4

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

attributes - group2

Finding site

Ectoderm structure 63206006

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Dysplasia 25723000

attributes - group1

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Skin structure 39937001

Associated morphology

Dysplasia 25723000

attributes - group6

Interprets

Sweating 415691001

Has interpretation

Abnormal 263654008

attributes - group8

Finding site

Tooth structure 38199008

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Morphologically abnormal structure 49755003

attributes - group7

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Nail unit structure 770802007

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

attributes - group5

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Hair structure 386045008

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

parents

Multiple malformation syndrome with facial-limb defects as major feature 23359005
Ectodermal dysplasia with hair-tooth-nail-sweating defect 239006001
Ectrodactyly 81208006
Skin lesion 95324001

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
Ectrodactyly-ectodermal dysplasia-clefting syndrome 39788007

SNOMED CT Concept 138875005
Clinical finding 404684003
Functional finding 118228005
Finding of sweating 297978007
Ectodermal dysplasia with sweating defect 239048008
Ectodermal dysplasia with tooth-sweating defect 239042009
Ectodermal dysplasia with tooth-nail-sweating defect 399974001
Ectodermal dysplasia with hair-tooth-nail-sweating defect 239006001
Ectrodactyly-ectodermal dysplasia-clefting syndrome 39788007

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Disorder of limb 128605003
Disorder of digit 128597007
Congenital anomaly of digit 403855001
Adactyly 275348004
Ectrodactyly 81208006
Ectrodactyly-ectodermal dysplasia-clefting syndrome 39788007

SNOMED CT Concept 138875005
Clinical finding 404684003
General finding of soft tissue 248402002
Disorder of soft tissue 19660004
Soft tissue lesion 239953001
Skin lesion 95324001
Ectrodactyly-ectodermal dysplasia-clefting syndrome 39788007

ancestors

sorted most to least specific

Multiple malformation syndrome with facial-limb defects as major feature 23359005
Ectodermal dysplasia with hair-tooth-nail-sweating defect 239006001
Ectrodactyly 81208006
Skin lesion 95324001
Multiple malformation syndrome with limb defect as major feature 41443008
Ectodermal dysplasia with hair-tooth-nail defects 239015008
Adactyly 275348004
Soft tissue lesion 239953001
Multiple malformation syndrome with facial defects as major feature 65094009
Ectodermal dysplasia with tooth-nail-sweating defect 399974001
Ectodermal syndrome with hair-tooth-sweating defects 402767001
Lesion of skin and/or skin-associated mucous membrane 714974000
Multiple system malformation syndrome 82354003
Ectodermal dysplasia with hair-tooth defects 239027006
Congenital anomaly of face 398302004
Ectodermal dysplasia with tooth-nail defects 239040001
Ectodermal dysplasia with hair-nail defect 239035009
Partial congenital absence of limb 60220000
Skin or mucosa lesion 247440002
Ectodermal dysplasia with tooth-sweating defect 239042009
Ectodermal syndrome with hair-sweating defects 402768006
Congenital malformation syndrome 400038003
Congenital anomaly of tooth 422977003
Disorder of face 118930001
Ectodermal dysplasia with nail defect 239046007
Congenital anomaly of hair 65033000
Ectodermal dysplasia with sweating defect 239048008
Congenital anomaly of digestive organ 128332003
Congenital anomaly of nail 35964007
Ectodermal dysplasia 8654005
Congenital abnormality of oral cavity 282041002
Malformation of tooth 422775003
Congenital anomaly of jaw 95473006
Finding of face 301310005
Finding of sweating 297978007
Disorder of hair 279425004
Congenital anomaly of digit 403855001
Genodermatosis 239001006
Disorder of tooth development 371136004
Developmental abnormality of nail 238715009
Congenital ectodermal defect 254154003
Congenital anomaly of mouth 128334002
Functional finding 118228005
Hair finding 247522004
Congenital anomaly of limb 60475009
Congenital anomaly of skin 199879009
Tooth disorder 234947003
Congenital anomaly of head 87290003
Disorder of nail 17790008
Disorder of embryonic structure 609521009
Congenital malformation of upper alimentary tract 275262008
Disorder of digit 128597007
Congenital anomaly of integument 38164009
Disorder of teeth AND/OR supporting structures 105995000
Disorder of digestive organ 76712006
Disorder of skin appendage 238714008
Tooth finding 278544002
Nail finding 247480006
Congenital anomaly of digestive tract 95470009
Congenital anomaly of digestive system 69518005
Disorder of limb 128605003
Oral cavity finding 116337000
Disorder of jaw 37156001
Disorder of skin 95320005
Disease of mouth 118938008
Congenital malformation 276654001
Finding of limb structure 302293008
Disorder of head 118934005
Finding of mouth region 423066003
Skin finding 106076001
Disorder of skin and/or subcutaneous tissue 80659006
Disorder of upper digestive tract 50410009
Developmental disorder 5294002
Disorder of soft tissue 19660004
Congenital disease 66091009
Disorder of integument 128598002
Finding of head region 298364001
Skin AND/OR mucosa finding 415531008
Disorder of digestive tract 84410009
General finding of soft tissue 248402002
Head finding 406122000
Integumentary system finding 106077005
Disorder of digestive system 53619000
Finding of head and neck region 118254002
Disorder of body system 362965005
Digestive system finding 386617003
Disease 64572001
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

Ectrodactyly-ectodermal dysplasia-clefting syndrome 39788007

SNOMED CT code