Prenatal-onset spinal muscular atrophy with congenital bone fractures   1172689007

SNOMED CT code


SNOMED code1172689007
namePrenatal-onset spinal muscular atrophy with congenital bone fractures
statusactive
date introduced2021-09-30
fully specified name(s)Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)
synonymsPrenatal-onset spinal muscular atrophy with congenital bone fractures
attributes - group4
InterpretsRange of joint movement   364564000
Has interpretationDecreased   1250004
attributes - group1
OccurrenceCongenital   255399007
Finding siteStructure of joint region   785818007
Associated morphologyContracture   57048009
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteStructure of long bone   113193004
Pathological processPathological developmental process   308490002
Associated morphologyFracture of multiple bones   771485007
attributes - group3
OccurrenceCongenital   255399007
Finding siteNervous system structure   25087005
parents
  • Injury of nervous system   128239009
  • Arthrogryposis multiplex congenita   205402004
  • Inherited arthrogryposis   28204005
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of nervous system   363235000
  • Motor neuron disease   37340000
  • Fracture of multiple bones   788192009
  • Congenital anomaly of skeletal bone   8447006
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Traumatic or non-traumatic injury   417163006
        Injury of nervous system   128239009
          Prenatal-onset spinal muscular atrophy with congenital bone fractures   1172689007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Arthrogryposis   111246005
          Arthrogryposis multiplex congenita   205402004
            Prenatal-onset spinal muscular atrophy with congenital bone fractures   1172689007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Inherited arthrogryposis   28204005
            Prenatal-onset spinal muscular atrophy with congenital bone fractures   1172689007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Prenatal-onset spinal muscular atrophy with congenital bone fractures   1172689007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Prenatal-onset spinal muscular atrophy with congenital bone fractures   1172689007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Motor neuron disease   37340000
            Prenatal-onset spinal muscular atrophy with congenital bone fractures   1172689007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Traumatic or non-traumatic injury   417163006
        Injury of musculoskeletal system   105606008
          Bone injury   284003005
            Fracture of bone   125605004
              Fracture of multiple bones   788192009
                Prenatal-onset spinal muscular atrophy with congenital bone fractures   1172689007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Prenatal-onset spinal muscular atrophy with congenital bone fractures   1172689007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Prenatal-onset spinal muscular atrophy with congenital bone fractures   1172689007

ancestors
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