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

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy (disorder)\Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome

\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome

\Renal impairment\Chronic kidney disease\Chronic renal failure\Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
\Renal impairment\Renal failure syndrome\Chronic renal failure\Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome

\Metabolic renal disease\Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome

Descriptions:

Id Description Lang Type Status Case? Module

3736337013 Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3736338015 Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3736339011 HUPRA syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3736340013 Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5995361000172112 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)

5995371000172115 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)

5992851000172112 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)

5992861000172114 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)

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	false	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	false	Inferred relationship	Some	1
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Is a	Mitochondrial cytopathy (disorder)	true	Inferred relationship	Some
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Is a	Metabolic renal disease	true	Inferred relationship	Some
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Interprets	Renal function	true	Inferred relationship	Some	5
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5

Inbound Relationships

Characteristic

Refinability

Reference Sets

Id	Description	Lang	Type	Status	Case?	Module
3736337013	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3736338015	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3736339011	HUPRA syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3736340013	Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5995361000172112	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)
5995371000172115	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)
5992851000172112	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)
5992861000172114	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)