Infantile multisystem neurologic, endocrine, pancreatic disease   1260450002

SNOMED CT code


SNOMED code1260450002
nameInfantile multisystem neurologic, endocrine, pancreatic disease
statusactive
date introduced2023-01-31
fully specified name(s)Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
synonyms
  • IMNEPD - infantile multisystem neurologic, endocrine, pancreatic disease
  • Infantile multisystem neurologic, endocrine, pancreatic disease
attributes - group8
Pathological processPathological developmental process   308490002
attributes - group4
InterpretsHearing   47078008
Has interpretationDecreased   1250004
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group1
OccurrenceInfancy   3658006
Finding sitePancreatic structure   15776009
attributes - group2
OccurrenceInfancy   3658006
Finding siteNervous system structure   25087005
attributes - group3
OccurrenceInfancy   3658006
Finding siteAuditory structure   91159003
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Decreased hearing   103276001
          Infantile multisystem neurologic, endocrine, pancreatic disease   1260450002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Infantile multisystem neurologic, endocrine, pancreatic disease   1260450002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Global developmental delay   224958001
            Infantile multisystem neurologic, endocrine, pancreatic disease   1260450002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Infantile multisystem neurologic, endocrine, pancreatic disease   1260450002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Infantile multisystem neurologic, endocrine, pancreatic disease   1260450002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Infantile multisystem neurologic, endocrine, pancreatic disease   1260450002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Hereditary disorder of endocrine system   363104002
            Infantile multisystem neurologic, endocrine, pancreatic disease   1260450002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Finding of pancreas   300357002
        Disorder of pancreas   3855007
          Pancreatic insufficiency   37992001
            Infantile multisystem neurologic, endocrine, pancreatic disease   1260450002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Sensorineural hearing loss   60700002
              Infantile multisystem neurologic, endocrine, pancreatic disease   1260450002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          Infantile multisystem neurologic, endocrine, pancreatic disease   1260450002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Infantile multisystem neurologic, endocrine, pancreatic disease   1260450002

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