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721297008: Galloway Mowat 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\Galloway Mowat syndrome
\Finding of substance level\Finding of urine substance level\Urine protein abnormal\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Galloway Mowat syndrome
\Finding of substance level\Protein level - finding\Albumin level - finding\Decreased albumin\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Galloway Mowat syndrome
\Finding of substance level\Protein level - finding\Urine protein abnormal\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Galloway Mowat syndrome

\Measurement finding outside reference range\Measurement finding above reference range\Urine substance level above reference range\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Galloway Mowat syndrome
\Measurement finding outside reference range\Measurement finding below reference range\Decreased albumin\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Galloway Mowat syndrome
\Measurement finding outside reference range\Urine protein abnormal\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Galloway Mowat syndrome

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

\Hereditary nephropathy\Galloway Mowat syndrome

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

\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Galloway Mowat syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Galloway Mowat syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Galloway Mowat syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Galloway Mowat syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Galloway Mowat syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Galloway Mowat syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Galloway Mowat syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Galloway Mowat syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Galloway Mowat syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Galloway Mowat 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\Galloway Mowat 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\Galloway Mowat syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Galloway Mowat syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Galloway Mowat 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\Galloway Mowat 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\Galloway Mowat 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\Galloway Mowat 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\Galloway Mowat syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Galloway Mowat syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Galloway Mowat syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Galloway Mowat syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Galloway Mowat syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Galloway Mowat syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3326229017 Galloway Mowat syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3326230010 Galloway Mowat syndrome en Synonym Active Case sensitive SNOMED CT core

3326231014 Galloway syndrome en Synonym Active Case sensitive SNOMED CT core

3326232019 Microcephaly, hiatus hernia, nephrotic syndrome en Synonym Active Case insensitive SNOMED CT core

3332175012 Nephrosis, neuronal dysmigration syndrome en Synonym Active Case insensitive SNOMED CT core

3332177016 The association of nephrotic syndrome with central nervous system anomalies. Approximately 40 cases have been reported since it was first described in 1968 in two siblings with early-onset nephrotic syndrome, microcephaly and hiatus hernia. Renal biopsy may show minimal glomerular lesions, mesangial proliferation, focal segmental hyalinosis or diffuse mesangial sclerosis. Neurological symptoms include microcephaly, psychomotor retardation, convulsions, hypotonia, abnormal cerebral gyri and sulci, cortical atrophy, hydrocephalus due to aqueductal stenosis, porencephaly or encephalomalacia. Histological analyses reveal anomalies of neuron migration. Facial dysmorphology and large ears have been reported as well as hiatus hernia, which is responsible for vomiting after the first feed. There is evidence that this syndrome is caused by homozygous mutation in the WDR73 gene (616144) on chromosome 15q25. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Galloway Mowat syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Galloway Mowat syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Galloway Mowat syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Galloway Mowat syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Galloway Mowat syndrome	Finding site	Structure of central nervous system	true	Inferred relationship	Some	1
Galloway Mowat syndrome	Is a	Hereditary nephropathy	true	Inferred relationship	Some
Galloway Mowat syndrome	Interprets	Albumin measurement	true	Inferred relationship	Some	4
Galloway Mowat syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Galloway Mowat syndrome	Interprets	Urine protein measurement	true	Inferred relationship	Some	3
Galloway Mowat syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	3
Galloway Mowat syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Galloway Mowat syndrome	Is a	Congenital nephrotic syndrome	false	Inferred relationship	Some
Galloway Mowat syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Galloway Mowat syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Galloway Mowat syndrome	Is a	Steroid-resistant nephrotic syndrome	true	Inferred relationship	Some
Galloway Mowat syndrome	Is a	Disorder of neuronal migration and differentiation	true	Inferred relationship	Some
Galloway Mowat syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Galloway Mowat syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Galloway Mowat syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Galloway Mowat syndrome	Finding site	Structure of central nervous system	false	Inferred relationship	Some	2
Galloway Mowat syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Galloway Mowat syndrome	Finding site	Glomerulus structure	false	Inferred relationship	Some	3
Galloway Mowat syndrome	Finding site	Glomerulus structure	true	Inferred relationship	Some	2

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
3326229017	Galloway Mowat syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3326230010	Galloway Mowat syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3326231014	Galloway syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3326232019	Microcephaly, hiatus hernia, nephrotic syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3332175012	Nephrosis, neuronal dysmigration syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3332177016	The association of nephrotic syndrome with central nervous system anomalies. Approximately 40 cases have been reported since it was first described in 1968 in two siblings with early-onset nephrotic syndrome, microcephaly and hiatus hernia. Renal biopsy may show minimal glomerular lesions, mesangial proliferation, focal segmental hyalinosis or diffuse mesangial sclerosis. Neurological symptoms include microcephaly, psychomotor retardation, convulsions, hypotonia, abnormal cerebral gyri and sulci, cortical atrophy, hydrocephalus due to aqueductal stenosis, porencephaly or encephalomalacia. Histological analyses reveal anomalies of neuron migration. Facial dysmorphology and large ears have been reported as well as hiatus hernia, which is responsible for vomiting after the first feed. There is evidence that this syndrome is caused by homozygous mutation in the WDR73 gene (616144) on chromosome 15q25.	en	Definition	Active	Case sensitive	SNOMED CT core