Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency   1228876007

SNOMED CT code


SNOMED code1228876007
nameSevere early-onset pulmonary alveolar proteinosis due to MARS deficiency
statusactive
date introduced2022-05-31
fully specified name(s)Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder)
synonyms
  • Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency
  • Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • Interstitial lung and liver disease
  • Hereditary pulmonary alveolar proteinosis with hepatic involvement
  • Pulmonary alveolar proteinosis Reunion island type
attributes - group2
Clinical courseProgressive   255314001
attributes - group3
Finding siteStructure of interstitial tissue of lung   113254000
attributes - group1
Finding sitePulmonary alveolar structure   113253006
Associated morphologyProtein deposition   49247009
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Proteinosis   59714007
          Pulmonary alveolar proteinosis   10501004
            Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency   1228876007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Connective tissue hereditary disorder   363045008
          Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency   1228876007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency   1228876007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Interstitial lung disease   233703007
          Chronic interstitial lung disease   434301000124102
            Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency   1228876007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency   1228876007

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