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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3736337013 Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
3736338015 Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3736339011 HUPRA syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3736340013 Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
2137781000172116 "syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale-alcalose" fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2137791000172118 "syndrome HUPRA (hyperuricemia, pulmonary hypertension, renal failure, alkalosis)" fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2137771000172119 "syndroom van hyperurikemie, pulmonale hypertensie, nierinsufficiëntie en alkalose" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2137801000172117 "syndroom van hyperurikemie, pulmonale hypertensie, nierfalen en alkalose" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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