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763889002: Spina bifida and hypospadias syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3645152019 Spina bifida and hypospadias syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3645153012 Spina bifida and hypospadias syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404264016 Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404265015 Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterised by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3645152019 Spina bifida and hypospadias syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3645153012 Spina bifida and hypospadias syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3645154018 A rare developmental defect during embryogenesis with the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet and hypertrichosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404264016 Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404265015 Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterised by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447301001000116 Spina bifida-Hypospadie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
881221000172119 syndrome de spina bifida-hypospadias fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
881221000172119 syndrome de spina bifida-hypospadias fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447301001000116 Spina bifida-Hypospadie-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
Spina bifida and hypospadias syndrome Is a Spina bifida of lumbar region (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spina bifida and hypospadias syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Spina bifida and hypospadias syndrome Is a Congenital anomaly of lumbar vertebra false Inferred relationship Existential restriction modifier (core metadata concept)
Spina bifida and hypospadias syndrome Is a Congenital anomaly of sacral vertebra false Inferred relationship Existential restriction modifier (core metadata concept)
Spina bifida and hypospadias syndrome Is a hypospadias balanique false Inferred relationship Existential restriction modifier (core metadata concept)
Spina bifida and hypospadias syndrome Is a Spina bifida of sacral region (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spina bifida and hypospadias syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spina bifida and hypospadias syndrome Associated morphology Congenital malposition false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spina bifida and hypospadias syndrome Finding site Structure of urethral meatus false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spina bifida and hypospadias syndrome Associated morphology Congenital failure of fusion with herniated tissue false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spina bifida and hypospadias syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Spina bifida and hypospadias syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spina bifida and hypospadias syndrome Finding site Structure of arch of sacral vertebra true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spina bifida and hypospadias syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spina bifida and hypospadias syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spina bifida and hypospadias syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spina bifida and hypospadias syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spina bifida and hypospadias syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spina bifida and hypospadias syndrome Finding site Structure of arch of lumbar vertebra true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spina bifida and hypospadias syndrome Finding site Neural tube structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spina bifida and hypospadias syndrome Associated morphology Congenital failure of fusion with herniated tissue false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spina bifida and hypospadias syndrome Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spina bifida and hypospadias syndrome Associated morphology Congenital malposition false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spina bifida and hypospadias syndrome Finding site Structure of urethral aspect of penis false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spina bifida and hypospadias syndrome Finding site Structure of arch of sacral vertebra false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spina bifida and hypospadias syndrome Finding site Structure of arch of lumbar vertebra false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spina bifida and hypospadias syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spina bifida and hypospadias syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spina bifida and hypospadias syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spina bifida and hypospadias syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spina bifida and hypospadias syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spina bifida and hypospadias syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spina bifida and hypospadias syndrome Finding site Structure of urethral meatus false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spina bifida and hypospadias syndrome Associated morphology Congenital malposition false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spina bifida and hypospadias syndrome Associated morphology Malposition (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spina bifida and hypospadias syndrome Associated morphology Malposition (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spina bifida and hypospadias syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spina bifida and hypospadias syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spina bifida and hypospadias syndrome Is a Glanular hypospadias true Inferred relationship Existential restriction modifier (core metadata concept)
Spina bifida and hypospadias syndrome Finding site Male external urethral orifice true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spina bifida and hypospadias syndrome Finding site Structure of urethral aspect of penis true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spina bifida and hypospadias syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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