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723449004: Pierson syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\...

\Finding of substance level\Finding of urine substance level\Urine substance level above reference range\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome
\Finding of substance level\Finding of urine substance level\Urine protein abnormal\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome
\Finding of substance level\Protein level - finding\Albumin level - finding\Decreased albumin\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome
\Finding of substance level\Protein level - finding\Urine protein abnormal\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Pierson syndrome

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

\Hereditary nephropathy\Pierson syndrome

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

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

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Pierson syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Pierson syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Pierson syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Pierson syndrome

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

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

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3424665018 Pierson syndrome en Synonym Active Case sensitive SNOMED CT core

3424666017 Microcoria and congenital nephrosis syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3424664019	Pierson syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3424665018	Pierson syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424666017	Microcoria and congenital nephrosis syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core