771477003: 15q overgrowth syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\Congenital anomaly of the kidney\15q overgrowth syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\15q overgrowth syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth 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\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth 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\Congenital anomaly of the kidney\15q overgrowth 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\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Congenital anomaly of the kidney\15q overgrowth 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\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth 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\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth 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\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\15q overgrowth syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth syndrome

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\15q overgrowth syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\15q overgrowth syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\15q overgrowth syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\15q overgrowth syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\15q overgrowth syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\15q overgrowth syndrome

\Disease\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15\Partial duplication of long arm of chromosome 15\15q overgrowth syndrome
\Disease\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15\Partial duplication of long arm of chromosome 15\15q overgrowth syndrome
\Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Partial trisomy of chromosome 15\Partial duplication of long arm of chromosome 15\15q overgrowth syndrome
\Disease\Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15\Partial duplication of long arm of chromosome 15\15q overgrowth syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth 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\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\15q overgrowth syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\15q overgrowth syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\15q overgrowth syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\15q overgrowth syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\15q overgrowth syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Partial trisomy of chromosome 15\Partial duplication of long arm of chromosome 15\15q overgrowth syndrome
\Disease\Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15\Partial duplication of long arm of chromosome 15\15q overgrowth syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\15q overgrowth syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\15q overgrowth syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\15q overgrowth syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\15q overgrowth syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\15q overgrowth syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\15q overgrowth syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3706385010 15q overgrowth syndrome en Synonym Active Initial character case insensitive SNOMED CT core

3706387019 15q overgrowth syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3706389016 A rare partial autosomal trisomy/tetrasomy characterised by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre and postnatal overgrowth, renal anomalies (for example horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioural abnormalities. Additional features may include craniosynostosis and macrocephaly. en Definition Active Case sensitive SNOMED CT core

3706390013 A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre and postnatal overgrowth, renal anomalies (for example horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
15q overgrowth syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
15q overgrowth syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
15q overgrowth syndrome	Is a	Congenital anomaly of the kidney	true	Inferred relationship	Some
15q overgrowth syndrome	Is a	15q partial trisomy syndrome	false	Inferred relationship	Some
15q overgrowth syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
15q overgrowth syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
15q overgrowth syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
15q overgrowth syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
15q overgrowth syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
15q overgrowth syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
15q overgrowth syndrome	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Some
15q overgrowth syndrome	Finding site	Kidney structure	true	Inferred relationship	Some	3
15q overgrowth syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
15q overgrowth syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
15q overgrowth syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
15q overgrowth syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
15q overgrowth syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
15q overgrowth syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
15q overgrowth syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	4
15q overgrowth syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
15q overgrowth syndrome	Finding site	Chromosome pair 15	true	Inferred relationship	Some	4
15q overgrowth syndrome	Is a	Partial duplication of long arm of chromosome 15	true	Inferred relationship	Some
15q overgrowth syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
15q overgrowth syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
15q overgrowth syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
15q overgrowth syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6

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
3706385010	15q overgrowth syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3706387019	15q overgrowth syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3706389016	A rare partial autosomal trisomy/tetrasomy characterised by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre and postnatal overgrowth, renal anomalies (for example horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioural abnormalities. Additional features may include craniosynostosis and macrocephaly.	en	Definition	Active	Case sensitive	SNOMED CT core
3706390013	A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre and postnatal overgrowth, renal anomalies (for example horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.	en	Definition	Active	Case sensitive	SNOMED CT core