Autosomal recessive myogenic arthrogryposis multiplex congenita   764812008

SNOMED CT code


SNOMED code764812008
nameAutosomal recessive myogenic arthrogryposis multiplex congenita
statusactive
date introduced2018-07-31
fully specified name(s)Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)
synonyms
  • Autosomal recessive myogenic arthrogryposis multiplex congenita
  • SYNE1-related arthrogryposis multiplex congenita
  • SYNE1 (spectrin repeat containing nuclear envelope protein 1) related arthrogryposis multiplex congenita
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteSkeletal muscle structure   127954009
OccurrenceCongenital   255399007
Associated morphologyDystrophy   4720007
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteStructure of joint region   785818007
Associated morphologyContracture   57048009
OccurrenceCongenital   255399007
attributes - group3
InterpretsRange of joint movement   364564000
Has interpretationDecreased   1250004
attributes - group4
Clinical courseProgressive   255314001
parents
  • Congenital hereditary muscular dystrophy   111501005
  • Arthrogryposis multiplex congenita   205402004
  • Inherited arthrogryposis   28204005
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Congenital anomaly of skeletal muscle   89886004
            Congenital hereditary muscular dystrophy   111501005
              Autosomal recessive myogenic arthrogryposis multiplex congenita   764812008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Arthrogryposis   111246005
          Arthrogryposis multiplex congenita   205402004
            Autosomal recessive myogenic arthrogryposis multiplex congenita   764812008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Inherited arthrogryposis   28204005
            Autosomal recessive myogenic arthrogryposis multiplex congenita   764812008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Autosomal recessive myogenic arthrogryposis multiplex congenita   764812008

ancestors
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