Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome   721086004

SNOMED CT code


SNOMED code721086004
nameDeafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
synonyms
  • Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
  • Pfeiffer Kapferer syndrome
attributes - group4
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteGenital structure   71934003
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteMetatarsal bone structure   53884002
Associated morphologyDysplasia   25723000
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure of metacarpal   36455000
Associated morphologyDysplasia   25723000
attributes - group5
Finding siteAuditory structure   91159003
attributes - group7
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group8
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group6
InterpretsHearing   47078008
parents
  • Skeletal dysplasia   105986008
  • Intellectual disability   110359009
  • Congenital anomaly of metatarsal bone   123569004
  • Congenital anomaly of metacarpal bone   123571004
  • Congenital malformation of genital organs   204821009
  • Hearing loss associated with syndrome   232333009
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Sensorineural hearing loss   60700002
  • Congenital dysplasia of limb   88631000119105
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Skeletal dysplasia   105986008
            Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome   721086004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome   721086004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Congenital anomaly of metatarsal bone   123569004
              Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome   721086004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of hand region   116311003
          Finding of bone in hand   299043001
            Congenital anomaly of metacarpal bone   123571004
              Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome   721086004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of trunk structure   302292003
      Finding of abdominopelvic segment of trunk   822987005
        Urogenital finding   118238000
          Genital finding   300479008
            Congenital malformation of genital organs   204821009
              Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome   721086004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Hearing loss associated with syndrome   232333009
              Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome   721086004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome   721086004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Sensorineural hearing loss   60700002
              Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome   721086004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Congenital dysplasia of limb   88631000119105
            Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome   721086004

ancestors
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