1142196000: Congenital dysplasia of spine (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital dysplasia of spine (disorder)
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Congenital dysplasia of spine (disorder)
\Finding of back (finding)\Finding of spinal region\Vertebral column finding\Disorder of vertebral column (disorder)\Congenital dysplasia of spine (disorder)
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital dysplasia of spine (disorder)
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Congenital dysplasia of spine (disorder)
\Finding of back (finding)\Disorder of back including back of neck.\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital dysplasia of spine (disorder)

\Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column (disorder)\Congenital dysplasia of spine (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital dysplasia of spine (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of vertebral column (disorder)\Congenital dysplasia of spine (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Congenital dysplasia of spine (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital dysplasia of spine (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Congenital dysplasia of spine (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital dysplasia of spine (disorder)

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital dysplasia of spine (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Congenital dysplasia of spine (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital dysplasia of spine (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of vertebral column (disorder)\Congenital dysplasia of spine (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Congenital dysplasia of spine (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital dysplasia of spine (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Congenital dysplasia of spine (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital dysplasia of spine (disorder)
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital dysplasia of spine (disorder)
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Congenital dysplasia of spine (disorder)
\Disease\Disorder of back including back of neck.\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital dysplasia of spine (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital dysplasia of spine (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital dysplasia of spine (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Congenital dysplasia of spine (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital dysplasia of spine (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4536935016 Spinal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4536936015 Congenital dysplasia of spine (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5455307011 Congenital dysplasia of spine en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dysplasia of spine (disorder)	Is a	Disorder of vertebral column (disorder)	true	Inferred relationship	Some
Congenital dysplasia of spine (disorder)	Finding site	Bone structure of spine	true	Inferred relationship	Some	1
Congenital dysplasia of spine (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Congenital dysplasia of spine (disorder)	Is a	Congenital skeletal dysplasia (disorder)	true	Inferred relationship	Some
Congenital dysplasia of spine (disorder)	Is a	Congenital anomaly of spine	true	Inferred relationship	Some
Congenital dysplasia of spine (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Congenital dysplasia of spine (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital dysplasia of spine (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital dysplasia of second lumbar vertebra (disorder)	Is a	True	Congenital dysplasia of spine (disorder)	Inferred relationship	Some
Congenital dysplasia of cervical vertebra (disorder)	Is a	True	Congenital dysplasia of spine (disorder)	Inferred relationship	Some
Jarcho-Levin syndrome	Is a	True	Congenital dysplasia of spine (disorder)	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	Is a	True	Congenital dysplasia of spine (disorder)	Inferred relationship	Some
Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.	Is a	True	Congenital dysplasia of spine (disorder)	Inferred relationship	Some
A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.	Is a	True	Congenital dysplasia of spine (disorder)	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.	Is a	True	Congenital dysplasia of spine (disorder)	Inferred relationship	Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Is a	True	Congenital dysplasia of spine (disorder)	Inferred relationship	Some
A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.	Is a	True	Congenital dysplasia of spine (disorder)	Inferred relationship	Some
Defects of tubular bones and spine (disorder)	Is a	True	Congenital dysplasia of spine (disorder)	Inferred relationship	Some
Melorheostosis of spine (disorder)	Is a	True	Congenital dysplasia of spine (disorder)	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed.	Is a	True	Congenital dysplasia of spine (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4536935016	Spinal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4536936015	Congenital dysplasia of spine (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5455307011	Congenital dysplasia of spine	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core