SCARF syndrome   734173003

SNOMED CT code


SNOMED code734173003
nameSCARF syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (disorder)
synonyms
  • SCARF (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome
  • SCARF syndrome
  • Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome
attributes - group2
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteExternal genitalia structure   77142006
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
attributes - group4
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyCongenital premature fusion   67798003
Finding siteJoint structure of suture of skull   51863000
attributes - group5
Finding siteConnective tissue structure   21793004
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group6
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group7
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • X-linked recessive hereditary disease   1162976004
  • Ambiguous genitalia   21321009
  • Inherited cutis laxa   254220005
  • Musculoskeletal and connective tissue disorder   312225001
  • Hereditary disorder of musculoskeletal system   363212003
  • Reproductive system hereditary disorder   363290007
  • Craniosynostosis syndrome   57219006
  • Multiple malformation syndrome with facial defects as major feature   65094009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          SCARF syndrome   734173003

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
              X-linked recessive hereditary disease   1162976004
                SCARF syndrome   734173003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of trunk structure   302292003
      Finding of abdominopelvic segment of trunk   822987005
        Finding of pelvic region of trunk   609625009
          Disorder of pelvic region of trunk   609619005
            Ambiguous genitalia   21321009
              SCARF syndrome   734173003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Congenital connective tissue disorder   363039000
          Inherited cutis laxa   254220005
            SCARF syndrome   734173003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Musculoskeletal and connective tissue disorder   312225001
          SCARF syndrome   734173003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          SCARF syndrome   734173003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            SCARF syndrome   734173003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Joint finding   118952005
        Cranial suture finding   248387005
          Imperfect fusion of skull   23939000
            Craniosynostosis syndrome   57219006
              SCARF syndrome   734173003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              SCARF syndrome   734173003

ancestors
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