Mandibuloacral dysostosis   109419009

SNOMED CT code


SNOMED code109419009
nameMandibuloacral dysostosis
statusactive
date introduced2002-01-31
fully specified name(s)Mandibuloacral dysostosis (disorder)
synonyms
  • Mandibuloacral dysplasia
  • Familial mandibuloacral dysplasia
  • Craniomandibular dermatodysostosis
  • Mandibuloacral dysostosis
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDystrophic atrophy   63611000
Finding siteSubcutaneous fatty tissue   67769002
OccurrenceCongenital   255399007
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyAbnormally short growth   11182007
Finding siteBone structure of clavicle   51299004
OccurrenceCongenital   255399007
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteBone structure of mandible   91609006
parents
  • Dysostosis   109420003
  • Subcutaneous fat disorder   126487009
  • Congenital anomaly of mandible   128224008
  • Lipoatrophy   248315005
  • Musculoskeletal and connective tissue disorder   312225001
  • Congenital connective tissue disorder   363039000
  • Connective tissue hereditary disorder   363045008
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of musculoskeletal system   363212003
  • Congenital anomaly of subcutaneous tissue   56759000
  • Longitudinal deficiency of part of upper limb   716636008
  • Lesion of face   767811005
  • Congenital deformity of clavicle   7921007
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Dysostosis   109420003
              Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of connective tissue   105969002
          Subcutaneous fat disorder   126487009
            Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of head   118934005
          Disorder of face   118930001
            Disorder of facial bone   128225009
              Disorder of mandible   128233005
                Congenital anomaly of mandible   128224008
                  Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Lipoatrophy   248315005
          Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of connective tissue   105969002
          Musculoskeletal and connective tissue disorder   312225001
            Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital connective tissue disorder   363039000
          Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of connective tissue   105969002
          Connective tissue hereditary disorder   363045008
            Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Integumentary system finding   106077005
        Disorder of integument   128598002
          Hereditary disorder of the integument   363185004
            Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Musculoskeletal finding   106028002
        Disorder of musculoskeletal system   928000
          Hereditary disorder of musculoskeletal system   363212003
            Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Integumentary system finding   106077005
        Subcutaneous tissue finding   410747005
          Disorder of subcutaneous tissue   128041002
            Congenital anomaly of subcutaneous tissue   56759000
              Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Longitudinal deficiency of part of upper limb   716636008
          Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Finding of body region   301857004
        Finding of head and neck region   118254002
          Head finding   406122000
            Finding of head region   298364001
              Finding of face   301310005
                Lesion of face   767811005
                  Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Deformity of bone   271084006
        Congenital deformity of clavicle   7921007
          Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Mandibuloacral dysostosis   109419009

ancestors
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