MMEP syndrome   715533002

SNOMED CT code


SNOMED code715533002
nameMMEP syndrome
statusactive
date introduced2016-07-31
fully specified name(s)Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
synonyms
  • Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
  • MMEP syndrome
  • Syndromic microphthalmia type 8
  • Viljoen Smart syndrome
attributes - group2
Finding siteEntire digit   361367007
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyAbsence   418560003
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyProtrusion   112639008
Finding siteBone structure of jaw   392081006
OccurrenceCongenital   255399007
attributes - group4
Pathological processPathological developmental process   308490002
Finding siteEntire eye proper   1290040004
OccurrenceCongenital   255399007
Associated morphologyCongenital smallness   41086002
attributes - group1
Has interpretationBelow reference range   281300000
InterpretsBirth head circumference   169876006
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            MMEP syndrome   715533002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Congenital anomaly of eye   19416009
            Microphthalmos   61142002
              MMEP syndrome   715533002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Protrusion of bone   298357003
          Congenital prognathism   72855002
            MMEP syndrome   715533002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        MMEP syndrome   715533002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Disorder of digit   128597007
          Congenital anomaly of digit   403855001
            Adactyly   275348004
              Ectrodactyly   81208006
                MMEP syndrome   715533002

ancestors
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