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726083008: Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of sacral region\Sacral spine finding\Disorder of sacrum\Kousseff syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Congenital anomaly of vertebral region of back\Kousseff syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Disorder of sacrum\Kousseff syndrome
\Finding of back\Finding of spinal region\Sacral spine finding\Disorder of sacrum\Kousseff syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Kousseff syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Disorder of sacrum\Kousseff syndrome
\Finding of back\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Kousseff syndrome

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Kousseff syndrome

\Central nervous system finding\Finding of meninges\Disorder of meninges\Congenital malformation of the meninges\Congenital meningocele\Kousseff syndrome
\Central nervous system finding\Finding of meninges\Disorder of meninges\Meningocele\Congenital meningocele\Kousseff syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Congenital meningocele\Kousseff syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of meninges\Congenital malformation of the meninges\Congenital meningocele\Kousseff syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of meninges\Meningocele\Congenital meningocele\Kousseff syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Kousseff syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Kousseff syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Kousseff syndrome

\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Congenital meningocele\Kousseff syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Congenital meningocele\Kousseff syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of meninges\Congenital malformation of the meninges\Congenital meningocele\Kousseff syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of meninges\Meningocele\Congenital meningocele\Kousseff syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Kousseff syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Kousseff syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Kousseff syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Congenital anomaly of the pelvis\Kousseff syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Disorder of sacrum\Kousseff syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Kousseff syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Kousseff syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Kousseff syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Kousseff syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Kousseff syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Kousseff syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Kousseff syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Kousseff syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Kousseff syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Kousseff syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Kousseff syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Congenital meningocele\Kousseff syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Kousseff syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Kousseff syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Kousseff syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Kousseff syndrome
\Disease\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Kousseff syndrome
\Disease\Disorder of back\Disorder of spinal region\Disorder of sacrum\Kousseff syndrome
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Kousseff syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Kousseff syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Kousseff syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Kousseff syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Congenital meningocele\Kousseff syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Kousseff syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Kousseff syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Kousseff syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Kousseff syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3448066015 Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3448067012 Kousseff syndrome en Synonym Active Case sensitive SNOMED CT core

3448070011 Congenital sacral meningocele with conotruncal heart defect syndrome en Synonym Active Case insensitive SNOMED CT core

3448071010 Congenital sacral meningocoele with conotruncal heart defect syndrome en Synonym Active Case insensitive SNOMED CT core

3448068019 Syndrome that is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Only five cases have been reported in the literature. The identification, by FISH, of 22q11.2 deletions in the majority of reported cases (including the original cases described by Kousseff) indicated that this syndrome is part of the variable clinical spectrum of monosomy 22q11. However, the absence of a 22q11.2 deletion in one patient suggests Kousseff syndrome to be a causally heterogeneous disorder. en Definition Active Case sensitive SNOMED CT core

3448069010 Syndrome that is characterised by the association of conotruncal heart defects, myelomeningocoele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Only five cases have been reported in the literature. The identification, by FISH, of 22q11.2 deletions in the majority of reported cases (including the original cases described by Kousseff) indicated that this syndrome is part of the variable clinical spectrum of monosomy 22q11. However, the absence of a 22q11.2 deletion in one patient suggests Kousseff syndrome to be a causally heterogeneous disorder. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Kousseff syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Kousseff syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Kousseff syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Kousseff syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
Kousseff syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Kousseff syndrome	Is a	Congenital and developmental anomalies of the nervous system	false	Inferred relationship	Some
Kousseff syndrome	Associated morphology	Congenital protrusion	false	Inferred relationship	Some	3
Kousseff syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Kousseff syndrome	Finding site	Structure of heart	true	Inferred relationship	Some	2
Kousseff syndrome	Is a	Congenital anomaly of musculoskeletal structure of trunk	false	Inferred relationship	Some
Kousseff syndrome	Associated morphology	Protrusion	true	Inferred relationship	Some	1
Kousseff syndrome	Finding site	Sacral spine structure	false	Inferred relationship	Some	1
Kousseff syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Kousseff syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Kousseff syndrome	Is a	Congenital meningocele	true	Inferred relationship	Some
Kousseff syndrome	Is a	Congenital anomaly of body wall	false	Inferred relationship	Some
Kousseff syndrome	Is a	Congenital anomaly of the pelvis	true	Inferred relationship	Some
Kousseff syndrome	Finding site	Structure of sacral vertebral column region	true	Inferred relationship	Some	1
Kousseff syndrome	Is a	Congenital anomaly of vertebral region of back	true	Inferred relationship	Some
Kousseff syndrome	Is a	Congenital heart disease	true	Inferred relationship	Some
Kousseff syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Kousseff syndrome	Is a	Congenital sacral meningocele	false	Inferred relationship	Some
Kousseff syndrome	Associated morphology	Congenital protrusion	false	Inferred relationship	Some	4
Kousseff syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Kousseff syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Kousseff syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Kousseff syndrome	Finding site	Sacral spine structure	false	Inferred relationship	Some	4
Kousseff syndrome	Associated morphology	Congenital protrusion	false	Inferred relationship	Some	5
Kousseff syndrome	Finding site	Meninges structure	false	Inferred relationship	Some	5
Kousseff syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Kousseff syndrome	Finding site	Structure of heart	false	Inferred relationship	Some	6
Kousseff syndrome	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Kousseff syndrome	Is a	Congenital anomaly of spine	false	Inferred relationship	Some
Kousseff syndrome	Is a	Sacral spine finding	false	Inferred relationship	Some
Kousseff syndrome	Is a	Congenital anomaly of lower trunk	false	Inferred relationship	Some
Kousseff syndrome	Is a	Meningocele	false	Inferred relationship	Some
Kousseff syndrome	Is a	Congenital malformation of the meninges	false	Inferred relationship	Some
Kousseff syndrome	Is a	Disorder of sacrum	true	Inferred relationship	Some
Kousseff syndrome	Is a	Congenital anomaly of lower limb	false	Inferred relationship	Some
Kousseff syndrome	Associated morphology	Hernia	false	Inferred relationship	Some	1
Kousseff syndrome	Finding site	Meninges structure	false	Inferred relationship	Some	1
Kousseff syndrome	Finding site	Meninges structure	true	Inferred relationship	Some	3
Kousseff syndrome	Associated morphology	Hernia	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3448066015	Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3448067012	Kousseff syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3448070011	Congenital sacral meningocele with conotruncal heart defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3448071010	Congenital sacral meningocoele with conotruncal heart defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3448068019	Syndrome that is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Only five cases have been reported in the literature. The identification, by FISH, of 22q11.2 deletions in the majority of reported cases (including the original cases described by Kousseff) indicated that this syndrome is part of the variable clinical spectrum of monosomy 22q11. However, the absence of a 22q11.2 deletion in one patient suggests Kousseff syndrome to be a causally heterogeneous disorder.	en	Definition	Active	Case sensitive	SNOMED CT core
3448069010	Syndrome that is characterised by the association of conotruncal heart defects, myelomeningocoele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Only five cases have been reported in the literature. The identification, by FISH, of 22q11.2 deletions in the majority of reported cases (including the original cases described by Kousseff) indicated that this syndrome is part of the variable clinical spectrum of monosomy 22q11. However, the absence of a 22q11.2 deletion in one patient suggests Kousseff syndrome to be a causally heterogeneous disorder.	en	Definition	Active	Case sensitive	SNOMED CT core