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763889002: syndroom van spina bifida en hypospadie (aandoening)


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
6729331000146110 syndroom van spina bifida en hypospadie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6729341000146119 syndroom van spina bifida en hypospadie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8686111000146116 syndroom van open ruggetje en hypospadie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spina bifida and hypospadias syndrome (disorder) Is a Spina bifida of lumbar region true Inferred relationship Some
Spina bifida and hypospadias syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Spina bifida and hypospadias syndrome (disorder) Is a Congenital anomaly of lumbar vertebra false Inferred relationship Some
Spina bifida and hypospadias syndrome (disorder) Is a Congenital anomaly of sacral vertebra false Inferred relationship Some
Spina bifida and hypospadias syndrome (disorder) Is a glandulaire hypospadie false Inferred relationship Some
Spina bifida and hypospadias syndrome (disorder) Is a Spina bifida of sacral region (disorder) true Inferred relationship Some
Spina bifida and hypospadias syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Spina bifida and hypospadias syndrome (disorder) Associated morphology congenitale afwijkende ligging (afwijkende morfologie) false Inferred relationship Some 6
Spina bifida and hypospadias syndrome (disorder) Finding site Structure of urethral meatus false Inferred relationship Some 6
Spina bifida and hypospadias syndrome (disorder) Associated morphology congenitaal fusiedefect met gehernieerd weefsel (afwijkende morfologie) false Inferred relationship Some 1
Spina bifida and hypospadias syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Spina bifida and hypospadias syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Spina bifida and hypospadias syndrome (disorder) Finding site Structure of arch of sacral vertebra true Inferred relationship Some 1
Spina bifida and hypospadias syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Spina bifida and hypospadias syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 5
Spina bifida and hypospadias syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Spina bifida and hypospadias syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Spina bifida and hypospadias syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Spina bifida and hypospadias syndrome (disorder) Finding site Structure of arch of lumbar vertebra true Inferred relationship Some 2
Spina bifida and hypospadias syndrome (disorder) Finding site Neural tube structure true Inferred relationship Some 4
Spina bifida and hypospadias syndrome (disorder) Associated morphology congenitaal fusiedefect met gehernieerd weefsel (afwijkende morfologie) false Inferred relationship Some 2
Spina bifida and hypospadias syndrome (disorder) Finding site Structure of nervous system (body structure) false Inferred relationship Some 5
Spina bifida and hypospadias syndrome (disorder) Associated morphology congenitale afwijkende ligging (afwijkende morfologie) false Inferred relationship Some 3
Spina bifida and hypospadias syndrome (disorder) Finding site Structure of urethral aspect of penis (body structure) false Inferred relationship Some 3
Spina bifida and hypospadias syndrome (disorder) Finding site Structure of arch of sacral vertebra false Inferred relationship Some 2
Spina bifida and hypospadias syndrome (disorder) Finding site Structure of arch of lumbar vertebra false Inferred relationship Some 1
Spina bifida and hypospadias syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Spina bifida and hypospadias syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Spina bifida and hypospadias syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Spina bifida and hypospadias syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Spina bifida and hypospadias syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Spina bifida and hypospadias syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Spina bifida and hypospadias syndrome (disorder) Finding site Structure of urethral meatus false Inferred relationship Some 5
Spina bifida and hypospadias syndrome (disorder) Associated morphology congenitale afwijkende ligging (afwijkende morfologie) false Inferred relationship Some 5
Spina bifida and hypospadias syndrome (disorder) Associated morphology Malposition (morphologic abnormality) true Inferred relationship Some 3
Spina bifida and hypospadias syndrome (disorder) Associated morphology Malposition (morphologic abnormality) false Inferred relationship Some 5
Spina bifida and hypospadias syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Spina bifida and hypospadias syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Spina bifida and hypospadias syndrome (disorder) Is a Glanular hypospadias true Inferred relationship Some
Spina bifida and hypospadias syndrome (disorder) Finding site Male external urethral orifice true Inferred relationship Some 3
Spina bifida and hypospadias syndrome (disorder) Finding site Structure of urethral aspect of penis (body structure) true Inferred relationship Some 5
Spina bifida and hypospadias syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 5
Spina bifida and hypospadias syndrome (disorder) Is a Congenital anomaly of lumbar spine false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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