Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT code


SNOMED code721973006
nameLipodystrophy, intellectual disability, deafness syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Lipodystrophy, intellectual disability, deafness syndrome (disorder)
synonyms
  • Lipodystrophy, intellectual disability, deafness syndrome
  • Rajab Spranger syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
OccurrenceCongenital   255399007
Associated morphologyDysplasia   25723000
attributes - group2
OccurrenceCongenital   255399007
Finding siteSubcutaneous fatty tissue   67769002
Pathological processPathological developmental process   308490002
Associated morphologyDystrophy   4720007
attributes - group5
InterpretsHearing   47078008
Has interpretationImpaired   260379002
attributes - group3
Finding siteAuditory structure   91159003
attributes - group6
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group7
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group4
Finding siteOsteoid tissue   39365008
parents
  • Skeletal dysplasia   105986008
  • Intellectual disability   110359009
  • Disorder with defective osteoid mineralization   126533001
  • Hearing loss associated with syndrome   232333009
  • Congenital total lipodystrophy   284449005
  • Musculoskeletal and connective tissue disorder   312225001
  • Auditory system hereditary disorder   362991006
  • Connective tissue hereditary disorder   363045008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of musculoskeletal system   363212003
  • Congenital anomaly of subcutaneous tissue   56759000
  • Sensorineural hearing loss   60700002
  • Genetic lipodystrophy   724841000
  • Multiple system malformation syndrome   82354003
  • Congenital anomaly of skeletal bone   8447006
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Skeletal dysplasia   105986008
            Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of mineral metabolism   45744005
          Disorder with defective osteoid mineralization   126533001
            Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Hearing loss associated with syndrome   232333009
              Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Congenital connective tissue disorder   363039000
          Congenital total lipodystrophy   284449005
            Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Musculoskeletal and connective tissue disorder   312225001
          Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Connective tissue hereditary disorder   363045008
          Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Subcutaneous tissue finding   410747005
        Disorder of subcutaneous tissue   128041002
          Congenital anomaly of subcutaneous tissue   56759000
            Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Sensorineural hearing loss   60700002
              Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic lipodystrophy   724841000
          Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Lipodystrophy, intellectual disability, deafness syndrome   721973006

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