Autosomal recessive hereditary disorder
Chronic lung disease
Connective tissue hereditary disorder
Hereditary disorder by system
Interstitial lung disease
Pulmonary alveolar proteinosis
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Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder)
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency
Hereditary pulmonary alveolar proteinosis with hepatic involvement
Interstitial lung and liver disease
Pulmonary alveolar proteinosis Reunion island type
A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive, and digital clubbing. Liver disease have been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis.
Id1228876007
StatusPrimitive
Clinical courseProgressive
Finding siteStructure of interstitial tissue of lung
Associated morphologyProtein deposition
Finding sitePulmonary alveolar structure
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetJ84.0
RuleTRUE
AdviceALWAYS J84.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified