Osteopenia, intellectual disability, sparse hair syndrome   732954002

SNOMED CT code


SNOMED code732954002
nameOsteopenia, intellectual disability, sparse hair syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Osteopenia, intellectual disability, sparse hair syndrome (disorder)
synonyms
  • Kaler Garrity Stern syndrome
  • Osteopenia, intellectual disability, sparse hair syndrome
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Associated morphologyDemineralized structure   128420001
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteHair structure   386045008
attributes - group1
Finding siteBone structure   272673000
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
attributes - group4
Has interpretationBelow reference range   281300000
InterpretsBone density scan   312681000
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Dysplasia with decreased bone density   254104009
  • Osteopenia   312894000
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of musculoskeletal system   363212003
  • Congenital anomaly of hair   65033000
  • 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
          Osteopenia, intellectual disability, sparse hair syndrome   732954002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Procedure related finding   127325009
      Bone density finding   385342005
        Bone density below reference range   449781000
          Dysplasia with decreased bone density   254104009
            Osteopenia, intellectual disability, sparse hair syndrome   732954002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of musculoskeletal system   363059001
          Degenerative disorder of bone   363054006
            Osteopenia   312894000
              Osteopenia, intellectual disability, sparse hair syndrome   732954002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Osteopenia, intellectual disability, sparse hair syndrome   732954002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Osteopenia, intellectual disability, sparse hair syndrome   732954002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Osteopenia, intellectual disability, sparse hair syndrome   732954002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Congenital anomaly of integument   38164009
          Congenital anomaly of skin   199879009
            Congenital anomaly of hair   65033000
              Osteopenia, intellectual disability, sparse hair syndrome   732954002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Osteopenia, intellectual disability, sparse hair syndrome   732954002

ancestors
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