SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Developmental disorder  5294002

Congenital malformation  276654001

Congenital malformation syndrome  400038003

Multiple system malformation syndrome  82354003

Multiple malformation syndrome, moderate short stature, facial   77701002

SNOMED CT code


SNOMED code77701002
nameMultiple malformation syndrome, moderate short stature, facial
statusactive
date introduced2002-01-31
fully specified name(s)Multiple malformation syndrome, moderate short stature, facial (disorder)
synonyms
  • Multiple malformation syndrome, moderate short stature, facial
  • Multiple malformation syndrome, moderate short stature, facial with or without genital features
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
parentsMultiple system malformation syndrome   82354003
children
  • Aarskog syndrome   14921002
  • Bovine achondroplasia   398919005  removed: 2014-01-31
  • Dolichocephalic dwarfism   39401000
  • Noonan syndrome   88327006  removed: 2004-07-31
  • Noonan syndrome-like disorder with loose anagen hair   723444009
  • Noonan's syndrome   205824006
  • Opitz-Frias syndrome   81771002
  • Short stature with valvular heart disease and characteristic facies syndrome   716193004
  • Smith-Lemli-Opitz syndrome   43929004
  • Thong Douglas Ferrante syndrome   716192009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome, moderate short stature, facial   77701002

ancestors
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