Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome   1177175008

SNOMED CT code


SNOMED code1177175008
nameSkeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
statusactive
date introduced2021-10-31
fully specified name(s)Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
synonyms
  • EXTL3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome
  • Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 (exostosin like glycosyltransferase 3) deficiency
  • Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
  • EXTL3-related neuro-immuno-skeletal dysplasia syndrome
  • Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
attributes - group1
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Pathological processAbnormal immune process   769247005
attributes - group3
InterpretsHeight / growth measure   271603002
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
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
          Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome   1177175008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome   1177175008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Immuno-osseous dysplasia   254067002
            Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome   1177175008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Spondylodysplastic group   278708009
              Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome   1177175008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome   1177175008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome   1177175008

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