Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome   718766002

SNOMED CT code


SNOMED code718766002
nameSpondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)
synonyms
  • Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome
  • Spondyloepiphyseal dysplasia Nishimura type
attributes - group4
OccurrenceCongenital   255399007
Associated morphologyCongenital premature fusion   67798003
Finding siteJoint structure of suture of skull   51863000
Pathological processPathological developmental process   308490002
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
attributes - group2
Finding siteLens clear   78076003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyOpacity   128305008
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
OccurrenceCongenital   255399007
Finding sitePalatal structure   72914001
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Congenital anomaly of bone and joint   237513002
  • Spondyloepiphyseal dysplasia congenita   278713008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of the visual system   363343008
  • Craniosynostosis syndrome   57219006
  • Congenital cataract   79410001
  • Autosomal recessive hereditary disorder   85995004
  • Cleft palate   87979003
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
          Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome   718766002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Congenital anomaly of bone and joint   237513002
              Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome   718766002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Spondyloepiphyseal dysplasia congenita   278713008
              Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome   718766002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome   718766002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome   718766002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome   718766002

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
              Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome   718766002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Cataract   193570009
            Congenital cataract   79410001
              Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome   718766002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome   718766002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Head finding   406122000
        Finding of head region   298364001
          Orofacial cleft   449790007
            Cleft palate   87979003
              Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome   718766002

ancestors
sorted most to least specific
cpt crosswalks

Rules-based maps relating CPT® codes to and from SNOMED CT® clinical concepts.  Forward and backward mapping allows for easy transition between code sets. Map-A-Code crosswalk tool easily crosswalks multiple codes between the code sets.

Access to this feature is available in the following products:
  • CPT® to SNOMED Crosswalks

demo
request yours today
subscribe
start today
newsletter
free subscription

Thank you for choosing Find-A-Code, please Sign In to remove ads.