Congenital absence of skeletal bone   127328006

SNOMED CT code


SNOMED code127328006
nameCongenital absence of skeletal bone
statusactive
date introduced2002-01-31
fully specified name(s)Congenital absence of skeletal bone (disorder)
synonymsCongenital absence of skeletal bone
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyAbsence   418560003
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
parents
children
  • Agenesis of clavicle   92964003
  • Complete aphalangia of lower limb   89434002
  • Complete aphalangia of upper limb   76842000
  • Congenital absence of basisphenoid bone   91871006
  • Congenital absence of carpal bone   91873009
  • Congenital absence of caudal vertebra   91876001  removed: 2014-01-31
  • Congenital absence of femur   47276000
  • Congenital absence of fibula   74245009
  • Congenital absence of humerus   47713000
  • Congenital absence of hyoid bone   91887009
  • Congenital absence of ilium   91888004
  • Congenital absence of ischium   91891004
  • Congenital absence of mandible   91896009
  • Congenital absence of metacarpal bone   91898005
  • Congenital absence of metatarsal bone   91899002
  • Congenital absence of ossicles of ear   75311005
  • Congenital absence of patella   6688006
  • Congenital absence of premaxilla   91903009
  • Congenital absence of presphenoid bone   91904003
  • Congenital absence of pubis   91905002
  • Congenital absence of radius   84918006
  • Congenital absence of rib   70974002
  • Congenital absence of scapula   91908000
  • Congenital absence of skull bone   841002
  • Congenital absence of sternum   12252009
  • Congenital absence of supraoccipital bone   91911004
  • Congenital absence of tarsal bone   91914007
  • Congenital absence of tibia   79177001
  • Congenital absence of tympanic anulus   91919002
  • Congenital absence of ulna   52022007
  • Congenital absence of vertebra   15843004
  • Congenital hemivertebra   68359008
  • Crane Heise syndrome   715991005
  • Ectromelia   43036001
  • Partial aphalangia of lower limb   59070002
  • Partial aphalangia of upper limb   45482001
  • Postaxial tetramelic oligodactyly   770946000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Bone absent   298350001
          Congenital absence of skeletal bone   127328006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Congenital absence of skeletal bone   127328006

ancestors
sorted most to least specific
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