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773578004: Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3724268018 Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724269014 Spondylocostal dysostosis, hypospadias, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724270010 A rare genetic bone developmental disorder characterised by generalised vertebral segmentation and fusion defects, disproportionate short stature (with predominant truncal shortness) and thoracolumbar scoliosis, associated with mild intellectual disability, hypospadias, partial cutaneous finger syndactyly and mild swan neck-like deformities of the fingers. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3724271014 A rare genetic bone developmental disorder characterized by generalized vertebral segmentation and fusion defects, disproportionate short stature (with predominant truncal shortness) and thoracolumbar scoliosis, associated with mild intellectual disability, hypospadias, partial cutaneous finger syndactyly and mild swan neck-like deformities of the fingers. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4208981000052114 syndrom med spondylokostal dysostos, hypospadi och intellektuell funktionsnedsättning sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Is a Finding of vertebra false Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Associated morphology medfödd malposition false Inferred relationship Some 2
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Finding site Structure of urethral meatus false Inferred relationship Some 2
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Is a Disorder of vertebral column (disorder) true Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Finding site Bone structure of spine false Inferred relationship Some 1
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Is a Hypospadias (disorder) true Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Finding site Bone structure of rib false Inferred relationship Some 3
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 1
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 3
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Is a Congenital anomaly of spine true Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Is a Congenital anomaly of rib true Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Is a Dysostosis true Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Is a Hereditary disorder of the urinary system true Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Associated morphology Malposition (morphologic abnormality) true Inferred relationship Some 3
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Finding site Bone structure of rib true Inferred relationship Some 1
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Finding site Bone structure of spine true Inferred relationship Some 2
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Finding site Structure of urethral meatus true Inferred relationship Some 3
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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