Richieri Costa-da Silva syndrome   782941005

SNOMED CT code


SNOMED code782941005
nameRichieri Costa-da Silva syndrome
statusactive
date introduced2019-07-31
fully specified name(s)Richieri Costa-da Silva syndrome (disorder)
synonyms
  • Richieri Costa-da Silva syndrome
  • Myotonia, intellectual disability, skeletal anomalies syndrome
attributes - group1
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
attributes - group2
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
attributes - group3
InterpretsHeight / growth measure   271603002
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Myotonic disorder   193237003
  • Metaphyseal chondrodysplasia   28681006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple system malformation syndrome   82354003
  • Autosomal recessive hereditary disorder   85995004
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
          Richieri Costa-da Silva syndrome   782941005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Myotonic disorder   193237003
            Richieri Costa-da Silva syndrome   782941005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Metaphyseal chondrodysplasia   28681006
              Richieri Costa-da Silva syndrome   782941005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Richieri Costa-da Silva syndrome   782941005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Richieri Costa-da Silva syndrome   782941005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Richieri Costa-da Silva syndrome   782941005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Richieri Costa-da Silva syndrome   782941005

ancestors
sorted most to least specific
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