Pseudoprogeria syndrome   733086003

SNOMED CT code


SNOMED code733086003
namePseudoprogeria syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Pseudoprogeria syndrome (disorder)
synonyms
  • Hall Berg Rudolph syndrome
  • Pseudoprogeria syndrome
  • Absent eyebrows and eyelashes with intellectual disability syndrome
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEye structure   81745001
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteEntire eyelash   244201001
Associated morphologyAgenesis   782173000
attributes - group4
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyCongenital smallness   41086002
Finding siteHead structure   69536005
attributes - group5
Pathological processPathological developmental process   308490002
Associated morphologyAgenesis   782173000
OccurrenceCongenital   255399007
Finding siteEntire eyebrow   265781000
attributes - group3
Has interpretationBelow reference range   281300000
InterpretsBirth head circumference   169876006
attributes - group6
Finding siteCentral nervous system structure   21483005
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group7
Has interpretationImpaired   260379002
InterpretsAdaptation behavior   406208005
attributes - group8
Has interpretationImpaired   260379002
InterpretsIntellectual ability   247573007
attributes - group10
InterpretsMovement   255324009
attributes - group9
InterpretsMovement observable   363847004
Has interpretationAbsent   2667000
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Pseudoprogeria syndrome   733086003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Pseudoprogeria syndrome   733086003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Complete bilateral paralysis   29188005
            Tetraplegia   11538006
              Pseudoprogeria syndrome   733086003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Congenital anomaly of central nervous system   128124001
          Pseudoprogeria syndrome   733086003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Pseudoprogeria syndrome   733086003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital glaucoma   204113001
          Pseudoprogeria syndrome   733086003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Congenital anomaly of ocular adnexa   128327004
            Congenital malformation of the eyebrow   253206006
              Absent eyebrow   253208007
                Pseudoprogeria syndrome   733086003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Skin finding   106076001
        Disorder of skin   95320005
          Aplasia of skin   254237003
            Pseudoprogeria syndrome   733086003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Skin finding   106076001
        Hair finding   247522004
          Disorder of hair   279425004
            Disorder of hair growth   267808001
              Pseudoprogeria syndrome   733086003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Pseudoprogeria syndrome   733086003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Pseudoprogeria syndrome   733086003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Premature aging syndrome   399959003
            Pseudoprogeria syndrome   733086003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Congenital anomaly of integument   38164009
          Congenital anomaly of skin   199879009
            Congenital anomaly of hair   65033000
              Congenital alopecia   2965006
                Congenital absence of eyelash   63935007
                  Pseudoprogeria syndrome   733086003

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
              Pseudoprogeria syndrome   733086003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Pseudoprogeria syndrome   733086003

ancestors
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