Dyskeratosis congenita   74911008

SNOMED CT code


SNOMED code74911008
nameDyskeratosis congenita
statusactive
date introduced2002-01-31
fully specified name(s)Dyskeratosis congenita (disorder)
synonyms
  • DKC - Dyskeratosis congenita
  • Cole-Engmann-Zinsser syndrome
  • Zinsser-Cole-Engmann syndrome
  • Dyskeratosis congenita
  • Zinsser-Cole-Engman syndrome
  • Congenital dyskeratosis
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyDyskeratosis   2097009
Finding siteSkin structure   39937001
attributes - group2
Finding siteEctoderm structure   63206006
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
parents
children
  • Autosomal dominant dyskeratosis congenita   707273001
  • Autosomal recessive dyskeratosis congenita   707272006
  • X-linked dyskeratosis congenita   708536001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Dyskeratosis congenita   74911008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Dyskeratosis congenita   74911008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Hereditary cancer-predisposing syndrome   699346009
            Dyskeratosis congenita   74911008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Congenital ectodermal defect   254154003
          Ectodermal dysplasia   8654005
            Dyskeratosis congenita   74911008

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
            Dyskeratosis congenita   74911008

ancestors
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