722231005: Perlman syndrome (disorder)

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

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

\Renal mass\Perlman syndrome (disorder)

\Kidney disease\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Kidney disease\Kidney lesion\Perlman syndrome (disorder)

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Perlman syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Perlman syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Perlman syndrome (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Kidney lesion\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal mass\Retroperitoneal mass\Renal mass\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Renal mass\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Kidney lesion\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Kidney lesion\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Mass of urogenital structure\Mass of urinary tract structure (finding)\Renal mass\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Mass of urinary tract structure (finding)\Renal mass\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Renal mass\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Kidney lesion\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Perlman syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Finding of trunk structure\Mass of trunk\Mass of urogenital structure\Mass of urinary tract structure (finding)\Renal mass\Perlman syndrome (disorder)
\Finding of trunk structure\Mass of trunk\Abdominal mass\Retroperitoneal mass\Renal mass\Perlman syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Kidney lesion\Perlman syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Perlman syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Perlman syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)

\Mass of body structure\Mass of body region\Mass of trunk\...

\Mass of urogenital structure\Mass of urinary tract structure (finding)\Renal mass\Perlman syndrome (disorder)

\Abdominal mass\Retroperitoneal mass\Renal mass\Perlman syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Perlman syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Perlman syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Perlman syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hamartoma (disorder)\Perlman syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Perlman syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Perlman syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Perlman syndrome (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Hamartoma (disorder)\Congenital hamartoma (disorder)\Perlman syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Perlman syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Perlman 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)\Perlman syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Kidney lesion\Perlman syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Perlman syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Perlman syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Perlman syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Perlman syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Perlman syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Perlman syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Perlman syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Perlman syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Perlman syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3331272016 Perlman syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3331273014 Perlman syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3331274015 Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. The facial dysmorphism is considered as characteristic with upsweeping anterior scalp hair, a depressed nasal bridge, hypotonic appearance with an open mouth, a prominent everted upper lip and mild micrognathia. Hyperinsulinism appears to be an important feature of this disease and may be a preventable cause of death. The syndrome appears to be inherited in an autosomal recessive manner. There is evidence the syndrome is caused by homozygous or compound heterozygous mutation in the DIS3L2 gene on chromosome 2q37. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3331275019 Perlman syndrome is characterised principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. The facial dysmorphism is considered as characteristic with upsweeping anterior scalp hair, a depressed nasal bridge, hypotonic appearance with an open mouth, a prominent everted upper lip and mild micrognathia. Hyperinsulinism appears to be an important feature of this disease and may be a preventable cause of death. The syndrome appears to be inherited in an autosomal recessive manner. There is evidence the syndrome is caused by homozygous or compound heterozygous mutation in the DIS3L2 gene on chromosome 2q37. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Perlman syndrome (disorder)	Is a	Congenital anomaly of the kidney	false	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	Renal mass	true	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	Congenital hamartoma (disorder)	true	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Perlman syndrome (disorder)	Associated morphology	Hamartoma	true	Inferred relationship	Some	2
Perlman syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Perlman syndrome (disorder)	Finding site	Kidney structure	true	Inferred relationship	Some	2
Perlman syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Perlman syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Perlman syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	2
Perlman syndrome (disorder)	Associated morphology	Hamartoma	false	Inferred relationship	Some	3
Perlman syndrome (disorder)	Finding site	Kidney structure	false	Inferred relationship	Some	3
Perlman syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Perlman syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Perlman syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Perlman syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Perlman syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Perlman syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	Kidney lesion	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331272016	Perlman syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331273014	Perlman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331274015	Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. The facial dysmorphism is considered as characteristic with upsweeping anterior scalp hair, a depressed nasal bridge, hypotonic appearance with an open mouth, a prominent everted upper lip and mild micrognathia. Hyperinsulinism appears to be an important feature of this disease and may be a preventable cause of death. The syndrome appears to be inherited in an autosomal recessive manner. There is evidence the syndrome is caused by homozygous or compound heterozygous mutation in the DIS3L2 gene on chromosome 2q37.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331275019	Perlman syndrome is characterised principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. The facial dysmorphism is considered as characteristic with upsweeping anterior scalp hair, a depressed nasal bridge, hypotonic appearance with an open mouth, a prominent everted upper lip and mild micrognathia. Hyperinsulinism appears to be an important feature of this disease and may be a preventable cause of death. The syndrome appears to be inherited in an autosomal recessive manner. There is evidence the syndrome is caused by homozygous or compound heterozygous mutation in the DIS3L2 gene on chromosome 2q37.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core