Hypohidrotic X-linked ectodermal dysplasia 239007005

SNOMED CT code

SNOMED code

239007005

name

Hypohidrotic X-linked ectodermal dysplasia

status

active

date introduced

2002-01-31

fully specified name(s)

Hypohidrotic X-linked ectodermal dysplasia (disorder)

synonyms

Christ-Siemens-Touraine syndrome
CST - Christ-Siemens-Touraine syndrome
Hypohidrotic X-linked ectodermal dysplasia

attributes - group1

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Ectoderm structure 63206006

Associated morphology

Dysplasia 25723000

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Nail unit structure 770802007

Occurrence

Congenital 255399007

attributes - group4

Occurrence

Congenital 255399007

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Hair structure 386045008

Pathological process

Pathological developmental process 308490002

attributes - group3

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Tooth structure 38199008

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

attributes - group5

Interprets

Sweating 415691001

Has interpretation

Abnormal 263654008

parents

Hereditary disorder of tooth 1148766007
X-linked hereditary disease 128430005
Ectodermal dysplasia with hair-tooth-nail-sweating defect 239006001
Developmental hereditary disorder 363070008
Hereditary disorder of the integument 363185004
Genetic disorder of nail 402775007

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Digestive system finding 386617003
Disorder of digestive system 53619000
Digestive system hereditary disorder 363080007
Hereditary disorder of tooth 1148766007
Hypohidrotic X-linked ectodermal dysplasia 239007005

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
Hypohidrotic X-linked ectodermal dysplasia 239007005

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
Hypohidrotic X-linked ectodermal dysplasia 239007005

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Hypohidrotic X-linked ectodermal dysplasia 239007005

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Disorder of integument 128598002
Hereditary disorder of the integument 363185004
Hypohidrotic X-linked ectodermal dysplasia 239007005

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Genetic disorder of nail 402775007
Hypohidrotic X-linked ectodermal dysplasia 239007005

ancestors

sorted most to least specific

Hereditary disorder of tooth 1148766007
X-linked hereditary disease 128430005
Ectodermal dysplasia with hair-tooth-nail-sweating defect 239006001
Developmental hereditary disorder 363070008
Hereditary disorder of the integument 363185004
Genetic disorder of nail 402775007
Sex-linked hereditary disorder 82852009
Ectodermal dysplasia with hair-tooth-nail defects 239015008
Digestive system hereditary disorder 363080007
Ectodermal dysplasia with tooth-nail-sweating defect 399974001
Ectodermal syndrome with hair-tooth-sweating defects 402767001
Ectodermal dysplasia with hair-tooth defects 239027006
Hereditary disorder by system 363137000
Ectodermal dysplasia with tooth-nail defects 239040001
Ectodermal dysplasia with hair-nail defect 239035009
Ectodermal dysplasia with tooth-sweating defect 239042009
Ectodermal syndrome with hair-sweating defects 402768006
Hereditary disease 32895009
Congenital anomaly of tooth 422977003
Ectodermal dysplasia with nail defect 239046007
Congenital anomaly of hair 65033000
Ectodermal dysplasia with sweating defect 239048008
Genetic disease 782964007
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 sweating 297978007
Disorder of hair 279425004
Genodermatosis 239001006
Disorder of tooth development 371136004
Developmental abnormality of nail 238715009
Congenital anomaly of digit 403855001
Congenital ectodermal defect 254154003
Congenital anomaly of mouth 128334002
Functional finding 118228005
Hair finding 247522004
Tooth disorder 234947003
Disorder of nail 17790008
Congenital anomaly of skin 199879009
Congenital anomaly of head 87290003
Congenital anomaly of limb 60475009
Disorder of embryonic structure 609521009
Congenital malformation of upper alimentary tract 275262008
Disorder of teeth AND/OR supporting structures 105995000
Disorder of digit 128597007
Tooth finding 278544002
Disorder of digestive organ 76712006
Congenital anomaly of integument 38164009
Disorder of skin appendage 238714008
Nail finding 247480006
Congenital anomaly of digestive tract 95470009
Oral cavity finding 116337000
Congenital anomaly of digestive system 69518005
Disorder of limb 128605003
Disease of mouth 118938008
Disorder of jaw 37156001
Disorder of skin 95320005
Finding of mouth region 423066003
Congenital malformation 276654001
Finding of limb structure 302293008
Disorder of head 118934005
Skin finding 106076001
Disorder of upper digestive tract 50410009
Disorder of skin and/or subcutaneous tissue 80659006
Finding of head region 298364001
Developmental disorder 5294002
Disorder of integument 128598002
Congenital disease 66091009
Disorder of digestive tract 84410009
Skin AND/OR mucosa finding 415531008
Disorder of soft tissue 19660004
Head finding 406122000
Integumentary system finding 106077005
Disorder of digestive system 53619000
General finding of soft tissue 248402002
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

Digestive system finding 386617003

Disorder of digestive system 53619000

Digestive system hereditary disorder 363080007

Hereditary disorder of tooth 1148766007

Hypohidrotic X-linked ectodermal dysplasia 239007005

SNOMED CT code