KRT14 related epidermolysis bullosa simplex 724206005

SNOMED CT code

SNOMED code

724206005

name

KRT14 related epidermolysis bullosa simplex

status

active

date introduced

2017-07-31

fully specified name(s)

Keratin 14 related epidermolysis bullosa simplex (disorder)

synonyms

KRT14 related epidermolysis bullosa simplex
Keratin 14 related epidermolysis bullosa simplex
EBS-AR KRT14 - epidermolysis bullosa simplex autosomal recessive keratin 14

attributes - group1

Occurrence

Congenital 255399007

Finding site

Stratum germinativum 62650009

Pathological process

Pathological developmental process 308490002

Associated morphology

Epidermolysis 85269007

parents

Autosomal recessive epidermolysis bullosa simplex 1156849001
Basal epidermolysis bullosa simplex 723163000

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Autosomal recessive epidermolysis bullosa simplex 1156849001
KRT14 related epidermolysis bullosa simplex 724206005

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Disorder of integument 128598002
Hereditary disorder of the integument 363185004
Epidermolysis bullosa 61003004
Epidermolysis bullosa simplex 67144006
Basal epidermolysis bullosa simplex 723163000
KRT14 related epidermolysis bullosa simplex 724206005

ancestors

sorted most to least specific

Autosomal recessive epidermolysis bullosa simplex 1156849001
Basal epidermolysis bullosa simplex 723163000
Epidermolysis bullosa simplex 67144006
Autosomal recessive hereditary disorder 85995004
Epidermolysis bullosa 61003004
Autosomal hereditary disorder 1899006
Genodermatosis 239001006
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

Disease 64572001

Genetic disease 782964007

Hereditary disease 32895009

Autosomal hereditary disorder 1899006

Autosomal recessive hereditary disorder 85995004

Autosomal recessive epidermolysis bullosa simplex 1156849001

KRT14 related epidermolysis bullosa simplex 724206005

SNOMED CT code