X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome   719156006

SNOMED CT code


SNOMED code719156006
nameX-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome
statusactive
date introduced2017-01-31
fully specified name(s)X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
synonyms
  • X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome
  • X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
attributes - group3
Clinical courseProgressive   255314001
attributes - group1
Finding siteNervous system structure   25087005
Associated morphologyDegenerative abnormality   107669003
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • X-linked recessive hereditary disease   1162976004
  • Chronic nervous system disorder   128283000
  • Degenerative disorder   362975008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
  • Multiple malformation syndrome with facial defects as major feature   65094009
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 intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome   719156006

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 intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome   719156006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome   719156006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome   719156006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome   719156006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome   719156006

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 intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome   719156006

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