Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome   782949007

SNOMED CT code


SNOMED code782949007
nameFacial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
statusactive
date introduced2019-07-31
fully specified name(s)Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder)
synonyms
  • FACES (facial dysmorphism, anorexia, cachexia, eye and skin anomalies) syndrome
  • Friedman Goodman syndrome
  • Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
attributes - group3
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
Associated morphologyPigment alteration   79644001
attributes - group1
OccurrenceCongenital   255399007
Finding siteRetinal structure   5665001
Associated morphologyDystrophy   4720007
attributes - group2
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
parents
  • Cafe-au-lait spots   201281002
  • Retinitis pigmentosa   28835009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Genetic disorder of skin pigmentation   724839001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of pigmentation   414032001
        Disorder of skin pigmentation   46690002
          Cafe-au-lait spots   201281002
            Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome   782949007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Hereditary retinal dystrophy   41799005
            Retinitis pigmentosa   28835009
              Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome   782949007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome   782949007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome   782949007

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
              Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome   782949007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic disorder of skin pigmentation   724839001
          Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome   782949007

ancestors
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