726106004: X-linked diffuse leiomyomatosis with Alport syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hereditary nephropathy\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome

\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disorder of renal parenchyma\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment 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\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment 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\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment 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\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment 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\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment 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\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\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\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\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\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\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\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\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\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Finding of trunk structure\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\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\...

\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome

\X-linked sensorineural hearing loss\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked sensorineural hearing loss\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplastic disease of uncertain behaviour\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of genitourinary system\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of genitourinary system\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport 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\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport 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\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport 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\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport 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\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of genitourinary system\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of genitourinary system\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport 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\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport 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\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport 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\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport 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\Nephritis\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport 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\Nephritis\Glomerulonephritis\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport 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\Hereditary nephritis\Alport syndrome\Alport syndrome X-linked\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Congenital disease\Congenital nephritis\X-linked diffuse leiomyomatosis with Alport syndrome
\Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\X-linked diffuse leiomyomatosis with Alport syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3448200017 X-linked diffuse leiomyomatosis with Alport syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3448201018 X-linked diffuse leiomyomatosis with Alport syndrome en Synonym Active Case sensitive SNOMED CT core

3448202013 X-linked diffuse leiomyomatosis, Alport syndrome en Synonym Active Case sensitive SNOMED CT core

3448203015 The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. The disease is due to a deletion involving the 5' terminal region of both COL4A5 and COL4A6 (as such, it forms a contiguous gene syndrome). Only the first two exons of COL4A6 are deleted but the extent of COL4A5 gene deletion is variable. en Definition Active Case sensitive SNOMED CT core

3448204014 The association of X-linked Alport syndrome with leiomyomatosis of the oesophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. The disease is due to a deletion involving the 5' terminal region of both COL4A5 and COL4A6 (as such, it forms a contiguous gene syndrome). Only the first two exons of COL4A6 are deleted but the extent of COL4A5 gene deletion is variable. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked diffuse leiomyomatosis with Alport syndrome	Associated morphology	Leiomyomatosis	true	Inferred relationship	Some	5
X-linked diffuse leiomyomatosis with Alport syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	1
X-linked diffuse leiomyomatosis with Alport syndrome	Is a	Anomaly of chromosome X	true	Inferred relationship	Some
X-linked diffuse leiomyomatosis with Alport syndrome	Is a	Neoplastic disease of uncertain behaviour	true	Inferred relationship	Some
X-linked diffuse leiomyomatosis with Alport syndrome	Is a	Congenital nephritis	true	Inferred relationship	Some
X-linked diffuse leiomyomatosis with Alport syndrome	Is a	Alport syndrome X-linked	true	Inferred relationship	Some
X-linked diffuse leiomyomatosis with Alport syndrome	Associated morphology	Chronic inflammation	true	Inferred relationship	Some	3
X-linked diffuse leiomyomatosis with Alport syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
X-linked diffuse leiomyomatosis with Alport syndrome	Finding site	Glomerulus structure	true	Inferred relationship	Some	3
X-linked diffuse leiomyomatosis with Alport syndrome	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	4
X-linked diffuse leiomyomatosis with Alport syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
X-linked diffuse leiomyomatosis with Alport syndrome	Finding site	Sex chromosome X	true	Inferred relationship	Some	4
X-linked diffuse leiomyomatosis with Alport syndrome	Associated morphology	Leiomyomatosis	false	Inferred relationship	Some	5
X-linked diffuse leiomyomatosis with Alport syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
X-linked diffuse leiomyomatosis with Alport syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
X-linked diffuse leiomyomatosis with Alport syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	2
X-linked diffuse leiomyomatosis with Alport syndrome	Interprets	Hearing	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3448200017	X-linked diffuse leiomyomatosis with Alport syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3448201018	X-linked diffuse leiomyomatosis with Alport syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3448202013	X-linked diffuse leiomyomatosis, Alport syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3448203015	The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. The disease is due to a deletion involving the 5' terminal region of both COL4A5 and COL4A6 (as such, it forms a contiguous gene syndrome). Only the first two exons of COL4A6 are deleted but the extent of COL4A5 gene deletion is variable.	en	Definition	Active	Case sensitive	SNOMED CT core
3448204014	The association of X-linked Alport syndrome with leiomyomatosis of the oesophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. The disease is due to a deletion involving the 5' terminal region of both COL4A5 and COL4A6 (as such, it forms a contiguous gene syndrome). Only the first two exons of COL4A6 are deleted but the extent of COL4A5 gene deletion is variable.	en	Definition	Active	Case sensitive	SNOMED CT core