Generalized junctional epidermolysis bullosa 254194001

SNOMED CT code

SNOMED code

254194001

name

Generalized junctional epidermolysis bullosa

status

active

date introduced

2002-01-31

fully specified name(s)

Generalized junctional epidermolysis bullosa (disorder)

synonyms

Generalized junctional epidermolysis bullosa
Generalised junctional epidermolysis bullosa

attributes - group1

Associated morphology

Epidermolysis 85269007

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Skin structure 39937001

parents

Junctional epidermolysis bullosa 399971009

children

Cicatricial junctional epidermolysis bullosa 254197008
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome 53748002
Junctional epidermolysis bullosa gravis of Herlitz 400140006
Junctional epidermolysis bullosa mitis 254196004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Disorder of integument 128598002
Hereditary disorder of the integument 363185004
Epidermolysis bullosa 61003004
Junctional epidermolysis bullosa 399971009
Generalized junctional epidermolysis bullosa 254194001

ancestors

sorted most to least specific

Junctional epidermolysis bullosa 399971009
Epidermolysis bullosa 61003004
Autosomal recessive hereditary disorder 85995004
Genodermatosis 239001006
Autosomal hereditary disorder 1899006
Developmental hereditary disorder 363070008
Hereditary disorder of the integument 363185004
Degenerative skin disorder 396325007
Congenital anomaly of skin 199879009
Degenerative disorder 362975008
Hereditary disorder by system 363137000
Congenital anomaly of integument 38164009
Hereditary disease 32895009
Disorder of skin 95320005
Genetic disease 782964007
Skin finding 106076001
Congenital malformation 276654001
Disorder of skin and/or subcutaneous tissue 80659006
Disorder of integument 128598002
Developmental disorder 5294002
Skin AND/OR mucosa finding 415531008
Congenital disease 66091009
Disorder of soft tissue 19660004
Integumentary system finding 106077005
Disorder of body system 362965005
General finding of soft tissue 248402002
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Integumentary system finding 106077005

Disorder of integument 128598002

Hereditary disorder of the integument 363185004

Epidermolysis bullosa 61003004

Junctional epidermolysis bullosa 399971009

Generalized junctional epidermolysis bullosa 254194001

SNOMED CT code