Metaphyseal chondrodysplasia, McKusick type   7720002

SNOMED CT code


SNOMED code7720002
nameMetaphyseal chondrodysplasia, McKusick type
statusactive
date introduced2002-01-31
fully specified name(s)Metaphyseal chondrodysplasia, McKusick type (disorder)
synonyms
  • Cartilage hair syndrome
  • Metaphyseal chondrodysplasia, McKusick type
  • Cartilage-hair hypoplasia syndrome
attributes - group2
Finding siteCartilage structure   771314001
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyHypoplasia   55199003
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyDysplasia   25723000
Finding siteBone structure   272673000
attributes - group3
InterpretsHeight / growth measure   271603002
parents
  • Metaphyseal chondrodysplasia   28681006
  • Connective tissue hereditary disorder   363045008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Congenital anomaly of cartilage   67988000
  • Osteochondropathy   77881008
  • 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
            Metaphyseal chondrodysplasia   28681006
              Metaphyseal chondrodysplasia, McKusick type   7720002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Connective tissue hereditary disorder   363045008
          Metaphyseal chondrodysplasia, McKusick type   7720002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Metaphyseal chondrodysplasia, McKusick type   7720002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Metaphyseal chondrodysplasia, McKusick type   7720002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Congenital connective tissue disorder   363039000
          Congenital anomaly of cartilage   67988000
            Metaphyseal chondrodysplasia, McKusick type   7720002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Cartilage finding   118954006
        Cartilage disorder   50927007
          Osteochondropathy   77881008
            Metaphyseal chondrodysplasia, McKusick type   7720002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Metaphyseal chondrodysplasia, McKusick type   7720002

ancestors
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