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
  • Developmental hereditary disorder   363070008
  • 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
children
  • Mandibuloacral dysplasia with type A lipodystrophy   1003431005
  • Mandibuloacral dysplasia with type B lipodystrophy   1003432003
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
    Disease   64572001
      Disorder of connective tissue   105969002
        Subcutaneous fat disorder   126487009
          Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of jaw   37156001
          Congenital anomaly of jaw   95473006
            Congenital anomaly of mandible   128224008
              Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Lipoatrophy   248315005
          Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Musculoskeletal and connective tissue disorder   312225001
          Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Congenital connective tissue disorder   363039000
          Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Connective tissue hereditary disorder   363045008
          Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Mandibuloacral dysostosis   109419009

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

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

SNOMED CT Concept   138875005
  Clinical finding   404684003
    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
        Congenital deformity of upper limb   1230271002
          Longitudinal deficiency of part of upper limb   716636008
            Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Lesion of face   767811005
            Mandibuloacral dysostosis   109419009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Deformation of bone   298356007
        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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