X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome   1197588008

SNOMED CT code


SNOMED code1197588008
nameX-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
statusactive
date introduced2022-02-28
fully specified name(s)X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
synonymsX-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
attributes - group4
InterpretsBirth head circumference   169876006
Has interpretationBelow reference range   281300000
attributes - group1
OccurrenceCongenital   255399007
Finding siteBone structure of jaw   392081006
Associated morphologyProtrusion   112639008
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteHead structure   69536005
Associated morphologyCongenital smallness   41086002
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Finding siteUrogenital structure   21514008
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Congenital microcephaly   1148758003
  • X-linked recessive hereditary disease   1162976004
  • Genitourinary congenital anomalies   287085006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital prognathism   72855002
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
          X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome   1197588008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome   1197588008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome   1197588008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of the genitourinary system   42030000
          Genitourinary congenital anomalies   287085006
            X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome   1197588008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome   1197588008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome   1197588008

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
              X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome   1197588008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Protrusion of bone   298357003
          Congenital prognathism   72855002
            X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome   1197588008

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