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
attributes - group3
Finding siteAuditory structure   91159003
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
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of musculoskeletal system   363212003
  • Congenital anomaly of subcutaneous tissue   56759000
  • Genetic lipodystrophy   724841000
  • Multiple system malformation syndrome   82354003
  • Congenital anomaly of skeletal bone   8447006
  • Autosomal recessive hereditary disorder   85995004
  • Congenital hearing disorder   95827002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital anomaly of musculoskeletal system   73573004
            Skeletal dysplasia   105986008
              Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Mental disorder   74732009
        Developmental mental disorder   129104009
          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
    Clinical history and observation findings   250171008
      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
      Congenital disease   66091009
        Congenital connective tissue disorder   363039000
          Congenital total lipodystrophy   284449005
            Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of connective tissue   105969002
          Musculoskeletal and connective tissue disorder   312225001
            Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      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
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of connective tissue   105969002
          Connective tissue hereditary disorder   363045008
            Lipodystrophy, intellectual disability, deafness syndrome   721973006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      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
    Finding by site   118234003
      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
    Finding by site   118234003
      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
    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

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Lipodystrophy, intellectual disability, deafness syndrome   721973006

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