Oro-facial digital syndrome type 14   763837007

SNOMED CT code


SNOMED code763837007
nameOro-facial digital syndrome type 14
statusactive
date introduced2018-07-31
fully specified name(s)Oro-facial digital syndrome type 14 (disorder)
synonyms
  • Oro-facial digital syndrome type 14
  • Microcephaly, cerebral malformation, orofaciodigital syndrome
  • Orofaciodigital syndrome type 14
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteStructure of internal part of mouth   700016008
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteDigit structure   82680008
attributes - group5
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteHead structure   69536005
OccurrenceCongenital   255399007
Associated morphologyCongenital smallness   41086002
attributes - group6
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteEctoderm structure   63206006
attributes - group7
InterpretsBirth head circumference   169876006
Has interpretationBelow reference range   281300000
attributes - group8
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group9
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
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
          Oro-facial digital syndrome type 14   763837007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Oro-facial digital syndrome type 14   763837007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Oro-facial digital syndrome type 14   763837007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Oro-facial digital syndrome type 14   763837007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Oro-facial digital syndrome type 14   763837007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Oral-facial-digital syndrome   52868006
          Oro-facial digital syndrome type 14   763837007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Oro-facial digital syndrome type 14   763837007

ancestors
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