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

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. 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

5494341000172110 syndroom van spondylocostale dysostose, hypospadie en mentale retardatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5494351000172112 syndroom van spondylocostale dysostose, hypospadie en verstandelijke handicap nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5494361000172114 syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Is a	Finding of vertebra	false	Inferred relationship	Some
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Occurrence	Congenital	false	Inferred relationship	Some	2
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Occurrence	Congenital	false	Inferred relationship	Some	3
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Associated morphology	Congenital malposition	false	Inferred relationship	Some	2
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Finding site	Structure of urethral meatus	false	Inferred relationship	Some	2
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Is a	Disorder of vertebral column (disorder)	false	Inferred relationship	Some
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Occurrence	Congenital	false	Inferred relationship	Some	1
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Finding site	Bone structure of spine	false	Inferred relationship	Some	1
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Is a	Hypospadias (disorder)	false	Inferred relationship	Some
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Finding site	Bone structure of rib	false	Inferred relationship	Some	3
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Is a	Intellectual disability	false	Inferred relationship	Some
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Is a	Congenital anomaly of spine	false	Inferred relationship	Some
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Is a	Congenital anomaly of rib	false	Inferred relationship	Some
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Is a	Dysostosis	false	Inferred relationship	Some
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Is a	Hereditary disorder of the urinary system	false	Inferred relationship	Some
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Is a	Multiple system malformation syndrome	false	Inferred relationship	Some
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Associated morphology	Dysplasia	false	Inferred relationship	Some	2
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Associated morphology	Malposition (morphologic abnormality)	false	Inferred relationship	Some	3
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Finding site	Bone structure of rib	false	Inferred relationship	Some	1
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Finding site	Bone structure of spine	false	Inferred relationship	Some	2
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Finding site	Structure of urethral meatus	false	Inferred relationship	Some	3
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	Is a	Developmental hereditary disorder	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

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Reference Sets

Concept inactivation indicator reference set

Back to Start

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
5494341000172110	syndroom van spondylocostale dysostose, hypospadie en mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5494351000172112	syndroom van spondylocostale dysostose, hypospadie en verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5494361000172114	syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)