723449004: Pierson syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Hereditary nephropathy (disorder)\Pierson syndrome (disorder)

\Disorder of renal parenchyma (disorder)\Glomerular disease\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)

\Protein-losing nephropathy (disorder)\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)

\Urine finding\Finding of urine substance level\...

\Urine substance level above reference range (finding)\Proteinuria\Protein-losing nephropathy (disorder)\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)

\Urine protein outside reference range (finding)\Proteinuria\Protein-losing nephropathy (disorder)\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)

\Procedure related finding\Evaluation finding\Measurement finding\...

\Finding of substance level (finding)\Finding of urine substance level\Urine substance level above reference range (finding)\Proteinuria\Protein-losing nephropathy (disorder)\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)
\Finding of substance level (finding)\Finding of urine substance level\Urine protein outside reference range (finding)\Proteinuria\Protein-losing nephropathy (disorder)\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)
\Finding of substance level (finding)\Protein level - finding\Albumin level - finding\Albumin below reference range\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)
\Finding of substance level (finding)\Protein level - finding\Urine protein outside reference range (finding)\Proteinuria\Protein-losing nephropathy (disorder)\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)

\Measurement finding outside reference range\Measurement finding above reference range\Urine substance level above reference range (finding)\Proteinuria\Protein-losing nephropathy (disorder)\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)
\Measurement finding outside reference range\Measurement finding below reference range (finding)\Albumin below reference range\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)
\Measurement finding outside reference range\Urine protein outside reference range (finding)\Proteinuria\Protein-losing nephropathy (disorder)\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Pierson syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Pierson syndrome (disorder)

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Pierson syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Pierson syndrome (disorder)

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Pierson syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Pierson syndrome (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Pierson syndrome (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Pierson syndrome (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Pierson syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Pierson syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Pierson syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pierson syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pierson syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Pierson syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Pierson syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Pierson syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Pierson syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Pierson syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Pierson syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Protein-losing nephropathy (disorder)\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Pierson syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Pierson syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Protein-losing nephropathy (disorder)\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Pierson syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Protein-losing nephropathy (disorder)\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Pierson syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Pierson syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Pierson syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Pierson syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Pierson syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Pierson syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Pierson syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Pierson syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3424664019 Pierson syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3424665018 Pierson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3424666017 Microcoria and congenital nephrosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3424667014 Rare syndrome with the association of congenital nephrotic syndrome, ocular anomalies and microcoria. The disorder results in proteinuria with nephrotic syndrome and histological lesions marked by diffuse mesangial sclerosis. Ocular anomalies are present from birth and include microcoria (small pupils that are not responsive to light) associated with absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development. Marked muscle hypotonia, movement disorders and psychomotor delay have also been reported. Mutations in the LAMB2 gene (3p21) encoding laminin beta 2 have been identified. Laminin beta 2 is expressed in the glomerular basement membrane at the neuromuscular junctions, as well as in the intraocular muscles, lens and retina. The disease is transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

878121000172110 syndrome de microcorie-néphrose congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

909451000172115 syndrome de Pierson fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

891181000172112 syndroom van Pierson nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

1018601000172116 microcorie, congenitale nefrose-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pierson syndrome (disorder)	Is a	Congenital anomaly of eye	true	Inferred relationship	Some
Pierson syndrome (disorder)	Is a	Congenital nephrotic syndrome	false	Inferred relationship	Some
Pierson syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Pierson syndrome (disorder)	Is a	Steroid-resistant nephrotic syndrome	true	Inferred relationship	Some
Pierson syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Pierson syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Pierson syndrome (disorder)	Finding site	Glomerulus structure	true	Inferred relationship	Some	2
Pierson syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Pierson syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Pierson syndrome (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	2
Pierson syndrome (disorder)	Finding site	Glomerulus structure	false	Inferred relationship	Some	3
Pierson syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Pierson syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Pierson syndrome (disorder)	Finding site	Eye structure	true	Inferred relationship	Some	1
Pierson syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Pierson syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Pierson syndrome (disorder)	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Pierson syndrome (disorder)	Interprets	Albumin measurement	true	Inferred relationship	Some	4
Pierson syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Pierson syndrome (disorder)	Interprets	Measurement of protein in urine (procedure)	true	Inferred relationship	Some	3
Pierson syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	3
Pierson syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3424664019	Pierson syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424665018	Pierson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424666017	Microcoria and congenital nephrosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424667014	Rare syndrome with the association of congenital nephrotic syndrome, ocular anomalies and microcoria. The disorder results in proteinuria with nephrotic syndrome and histological lesions marked by diffuse mesangial sclerosis. Ocular anomalies are present from birth and include microcoria (small pupils that are not responsive to light) associated with absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development. Marked muscle hypotonia, movement disorders and psychomotor delay have also been reported. Mutations in the LAMB2 gene (3p21) encoding laminin beta 2 have been identified. Laminin beta 2 is expressed in the glomerular basement membrane at the neuromuscular junctions, as well as in the intraocular muscles, lens and retina. The disease is transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
878121000172110	syndrome de microcorie-néphrose congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
909451000172115	syndrome de Pierson	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
891181000172112	syndroom van Pierson	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
1018601000172116	microcorie, congenitale nefrose-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)