X-linked central congenital hypothyroidism with late-onset testicular enlargement   771510006

SNOMED CT code


SNOMED code771510006
nameX-linked central congenital hypothyroidism with late-onset testicular enlargement
statusactive
date introduced2019-01-31
fully specified name(s)X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
synonyms
  • IGSF1 (immunoglobulin superfamily member 1) deficiency syndrome
  • X-linked central congenital hypothyroidism with late-onset macroorchidism
  • X-linked central congenital hypothyroidism with late-onset testicular enlargement
attributes - group1
Associated morphologyHypertrophy   56246009
OccurrenceAdolescence   263659003
Finding siteTestis structure   40689003
attributes - group2
Finding siteThyroid structure   69748006
parents
  • X-linked recessive hereditary disease   1162976004
  • Central hypothyroidism   26692000
  • Hypertrophy of testis   32121007
  • Hereditary disorder of endocrine system   363104002
  • Reproductive system hereditary disorder   363290007
hierarchies
a selection of possible paths
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 central congenital hypothyroidism with late-onset testicular enlargement   771510006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of neck   118939000
        Disorder of thyroid gland   14304000
          Hypothyroidism   40930008
            Central hypothyroidism   26692000
              X-linked central congenital hypothyroidism with late-onset testicular enlargement   771510006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of trunk structure   302292003
      Finding of abdominopelvic segment of trunk   822987005
        Finding of pelvic region of trunk   609625009
          Male genitalia finding   249230006
            Testicular finding   249236000
              Disorder of testis   64910008
                Hypertrophy of testis   32121007
                  X-linked central congenital hypothyroidism with late-onset testicular enlargement   771510006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Hereditary disorder of endocrine system   363104002
            X-linked central congenital hypothyroidism with late-onset testicular enlargement   771510006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            X-linked central congenital hypothyroidism with late-onset testicular enlargement   771510006

ancestors
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