Autosomal recessive cutis laxa type 2B   778068007

SNOMED CT code


SNOMED code778068007
nameAutosomal recessive cutis laxa type 2B
statusactive
date introduced2019-01-31
fully specified name(s)Autosomal recessive cutis laxa type 2B (disorder)
synonyms
  • Autosomal recessive cutis laxa type 2B
  • Autosomal recessive cutis laxa type 2 progeroid type
  • ARCL2B - autosomal recessive cutis laxa type 2B
attributes - group1
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
attributes - group4
Has interpretationBelow reference range   281300000
InterpretsBone density scan   312681000
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteConnective tissue structure   21793004
parents
  • Congenital anomaly of skin   199879009
  • Dysplasia with decreased bone density   254104009
  • Cutis laxa, recessive, type II   254223007
  • Musculoskeletal and connective tissue disorder   312225001
  • Hereditary disorder of musculoskeletal system   363212003
  • Disorder of proline AND/OR hydroxyproline metabolism   37800003
  • Metabolic bone disease   50279003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Congenital anomaly of integument   38164009
          Congenital anomaly of skin   199879009
            Autosomal recessive cutis laxa type 2B   778068007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Procedure related finding   127325009
      Bone density finding   385342005
        Bone density below reference range   449781000
          Dysplasia with decreased bone density   254104009
            Autosomal recessive cutis laxa type 2B   778068007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Congenital connective tissue disorder   363039000
          Inherited cutis laxa   254220005
            Cutis laxa, autosomal recessive   59451000
              Cutis laxa, recessive, type II   254223007
                Autosomal recessive cutis laxa type 2B   778068007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Musculoskeletal and connective tissue disorder   312225001
          Autosomal recessive cutis laxa type 2B   778068007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Autosomal recessive cutis laxa type 2B   778068007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of organic acid metabolism   116021002
          Disorder of amino acid metabolism   44779003
            Disorder of amino acid and organic acid metabolism   237911005
              Disorder of proline AND/OR hydroxyproline metabolism   37800003
                Autosomal recessive cutis laxa type 2B   778068007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic bone disease   50279003
          Autosomal recessive cutis laxa type 2B   778068007

ancestors
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