Hypoplasia and coloboma of alar cartilage with telecanthus syndrome   722284009

SNOMED CT code


SNOMED code722284009
nameHypoplasia and coloboma of alar cartilage with telecanthus syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder)
synonyms
  • Hypoplasia and coloboma of alar cartilage with telecanthus syndrome
  • Alar cartilage hypoplasia, coloboma, telecanthus syndrome
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteStructure of palpebral fissure   595000
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyHypoplasia   55199003
OccurrenceCongenital   255399007
Finding siteAlar cartilage structure   360954005
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
OccurrenceCongenital   255399007
Finding siteAlar cartilage structure   360954005
parents
  • Congenital cleft nose   204521002
  • Soft tissue lesion   239953001
  • Telecanthus   246803005
  • Disorder of soft tissue of head   280131007
  • Connective tissue hereditary disorder   363045008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of the visual system   363343008
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital anomaly of cartilage   67988000
  • Autosomal recessive hereditary disorder   85995004
  • Congenital anomaly of eyelid   91158006
  • Congenital hypoplasia of nose   93278002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Ear, nose and throat disorder   232208008
        Disorder of the nose   89488007
          Congenital anomaly of nose   128274005
            Congenital cleft nose   204521002
              Hypoplasia and coloboma of alar cartilage with telecanthus syndrome   722284009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    General finding of soft tissue   248402002
      Disorder of soft tissue   19660004
        Soft tissue lesion   239953001
          Hypoplasia and coloboma of alar cartilage with telecanthus syndrome   722284009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Eyelid finding   246812007
        Palpebral fissure finding   386656009
          Telecanthus   246803005
            Hypoplasia and coloboma of alar cartilage with telecanthus syndrome   722284009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    General finding of soft tissue   248402002
      Disorder of soft tissue   19660004
        Disorder of soft tissue of head   280131007
          Hypoplasia and coloboma of alar cartilage with telecanthus syndrome   722284009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Connective tissue hereditary disorder   363045008
          Hypoplasia and coloboma of alar cartilage with telecanthus syndrome   722284009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Hypoplasia and coloboma of alar cartilage with telecanthus syndrome   722284009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Hypoplasia and coloboma of alar cartilage with telecanthus syndrome   722284009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Hypoplasia and coloboma of alar cartilage with telecanthus syndrome   722284009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Hypoplasia and coloboma of alar cartilage with telecanthus syndrome   722284009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Congenital connective tissue disorder   363039000
          Congenital anomaly of cartilage   67988000
            Hypoplasia and coloboma of alar cartilage with telecanthus syndrome   722284009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Hypoplasia and coloboma of alar cartilage with telecanthus syndrome   722284009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Eyelid finding   246812007
        Disorder of eyelid   60113004
          Congenital anomaly of eyelid   91158006
            Hypoplasia and coloboma of alar cartilage with telecanthus syndrome   722284009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Ear, nose and throat disorder   232208008
        Disorder of the nose   89488007
          Disorder of external nose   232379004
            Congenital hypoplasia of nose   93278002
              Hypoplasia and coloboma of alar cartilage with telecanthus syndrome   722284009

ancestors
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