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776416004: Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3736337013 Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome en Synonym Active Case insensitive SNOMED CT core
3736338015 Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3736339011 HUPRA syndrome en Synonym Active Case sensitive SNOMED CT core
3736340013 Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome en Synonym Active Case insensitive SNOMED CT core
3736341012 A rare genetic mitochondrial disease with characteristics of early-onset progressive renal failure, manifesting with hyperuricaemia, hyponatraemia, hypomagnesaemia, hypochloraemic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and in some pancytopenia. Caused by homozygous mutation in the SARS2 gene, which encodes mitochondrial seryl-tRNA synthetase on chromosome 19q13.2. en Definition Active Case sensitive SNOMED CT core
3736342017 A rare genetic mitochondrial disease with characteristics of early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and in some pancytopenia. Caused by homozygous mutation in the SARS2 gene, which encodes mitochondrial seryl-tRNA synthetase on chromosome 19q13.2. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a Chronic disease of respiratory system false Inferred relationship Some
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Clinical course Progressive true Inferred relationship Some 2
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a Chronic renal failure true Inferred relationship Some
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a Renal tubular disorder true Inferred relationship Some
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a Chronic metabolic disorder true Inferred relationship Some
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a Chronic disease of cardiovascular system true Inferred relationship Some
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Finding site Structure of pulmonary blood vessel true Inferred relationship Some 3
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Interprets Measurement of renal function false Inferred relationship Some 1
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a Hereditary nephropathy true Inferred relationship Some
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a Pulmonary hypertension true Inferred relationship Some
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Finding site Renal tubule structure true Inferred relationship Some 4
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Has interpretation Impaired false Inferred relationship Some 1
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a Mitochondrial cytopathy true Inferred relationship Some
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a Metabolic renal disease true Inferred relationship Some
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Interprets Renal function true Inferred relationship Some 5
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Has interpretation Impaired true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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