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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3448067012 Kousseff syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448070011 Congenital sacral meningocele with conotruncal heart defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448071010 Congenital sacral meningocoele with conotruncal heart defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403531013 A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403532018 A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448066015 Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448067012 Kousseff syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448070011 Congenital sacral meningocele with conotruncal heart defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448071010 Congenital sacral meningocoele with conotruncal heart defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403531013 A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403532018 A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3429961001000110 Kousseff-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5846161000241114 méningocèle sacrale congénitale avec malformation cardiaque conotroncale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5846171000241118 syndrome de Kousseff fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5846161000241114 méningocèle sacrale congénitale avec malformation cardiaque conotroncale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5846171000241118 syndrome de Kousseff fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3429961001000110 Kousseff-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Congenital heart disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Congenital sacral meningocele true Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Associated morphology Congenital protrusion false Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Finding site Sacral spine structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Associated morphology Congenital protrusion false Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Finding site Meninges structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Finding site Heart structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Congenital anomaly of skeletal bone false Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Congenital anomaly of spine false Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Sacral spine finding false Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Congenital anomaly of lower trunk false Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Meningocele false Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Congenital malformation of the meninges false Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Disorder of sacrum false Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Congenital anomaly of lower limb false Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Associated morphology Herniated structure (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Finding site Meninges structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Finding site Meninges structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Congenital and developmental anomalies of the nervous system false Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Associated morphology Congenital protrusion false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Finding site Heart structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Congenital anomaly of musculoskeletal structure of trunk false Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Associated morphology Protrusion false Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Finding site Sacral spine structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Congenital meningocele false Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Congenital anomaly of body wall false Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Congenital anomaly of the pelvis false Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Finding site Structure of sacral vertebral column region (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Congenital anomaly of vertebral region of back (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Finding site Structure of arch of vertebra true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Finding site Sacral spinal cord meninges structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a Congenital spinal meningocele true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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