205043005: Congenital deformity of spine (disorder)

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

\Deformity (finding)\Deformity of spine\Congenital deformity of spine
\Deformity (finding)\Congenital deformity\Congenital deformity of spine

\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 deformity of spine
\Finding of back (finding)\Finding of spinal region\Deformity of spine\Congenital deformity of spine
\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 deformity of spine
\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 deformity of spine

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital deformity of spine
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity\Congenital deformity of spine
\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 deformity of spine
\Disease\Disorder of back including back of neck.\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital deformity of spine
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital deformity of spine
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of spine

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

314422016 Congenital deformity of spine en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

590355017 Congenital deformity of spine (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2095001000005116 kongenit rygsøjledeformitet da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital deformity of spine	Is a	Congenital anomaly of spine	true	Inferred relationship	Some
Congenital deformity of spine	Finding site	Bone structure of spine	false	Inferred relationship	Some
Congenital deformity of spine	Occurrence	Congenital	false	Inferred relationship	Some
Congenital deformity of spine	Associated morphology	kongenit deformitet	false	Inferred relationship	Some	1
Congenital deformity of spine	Is a	Congenital deformity	true	Inferred relationship	Some
Congenital deformity of spine	Is a	Congenital anomaly of spine	false	Inferred relationship	Some
Congenital deformity of spine	Occurrence	Congenital	false	Inferred relationship	Some
Congenital deformity of spine	Finding site	Bone structure of spine	false	Inferred relationship	Some	2
Congenital deformity of spine	Finding site	Spinal struktur	false	Inferred relationship	Some	1
Congenital deformity of spine	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital deformity of spine	Finding site	Spinal struktur	false	Inferred relationship	Some	1
Congenital deformity of spine	Associated morphology	kongenit deformitet	false	Inferred relationship	Some	1
Congenital deformity of spine	Is a	Deformity of spine	true	Inferred relationship	Some
Congenital deformity of spine	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital deformity of spine	Finding site	Structure of vertebral column (body structure)	false	Inferred relationship	Some	2
Congenital deformity of spine	Associated morphology	kongenit deformitet	false	Inferred relationship	Some	3
Congenital deformity of spine	Finding site	Struktur af ryggens vertebralområde	false	Inferred relationship	Some	3
Congenital deformity of spine	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital deformity of spine	Is a	Congenital anomaly of vertebral region of back	false	Inferred relationship	Some
Congenital deformity of spine	Associated morphology	kongenit deformitet	false	Inferred relationship	Some	1
Congenital deformity of spine	Finding site	Struktur af ryggens vertebralområde	false	Inferred relationship	Some	1
Congenital deformity of spine	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital deformity of spine	Finding site	Structure of vertebral column and/or spinal cord (body structure)	true	Inferred relationship	Some	1
Congenital deformity of spine	Associated morphology	Deformity (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Kongenit postural rygskævhed	Is a	False	Congenital deformity of spine	Inferred relationship	Some
Congenital postural scoliosis	Is a	False	Congenital deformity of spine	Inferred relationship	Some
Kongenit postural lordose	Is a	False	Congenital deformity of spine	Inferred relationship	Some
kongenit deformitet af rygsøjlen, uspecificeret	Is a	False	Congenital deformity of spine	Inferred relationship	Some
Kongenit postural rygskævhed, ikke nærmere specificeret	Is a	False	Congenital deformity of spine	Inferred relationship	Some
Deformationes columnae vertebralis congenitae, ikke nærmere specificeret	Is a	False	Congenital deformity of spine	Inferred relationship	Some
Congenital deformity of lumbosacral region	Is a	False	Congenital deformity of spine	Inferred relationship	Some
Congenital deformity of sacroiliac joint	Is a	False	Congenital deformity of spine	Inferred relationship	Some
Congenital lordosis/scoliosis (disorder)	Is a	False	Congenital deformity of spine	Inferred relationship	Some
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.	Is a	False	Congenital deformity of spine	Inferred relationship	Some
Congenital deformity of lumbosacral joint (disorder)	Is a	True	Congenital deformity of spine	Inferred relationship	Some
A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.	Is a	False	Congenital deformity of spine	Inferred relationship	Some
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.	Is a	False	Congenital deformity of spine	Inferred relationship	Some
Intellectual disability with cataract and kyphosis syndrome	Is a	False	Congenital deformity of spine	Inferred relationship	Some
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.	Is a	False	Congenital deformity of spine	Inferred relationship	Some
Congenital kyphosis	Is a	False	Congenital deformity of spine	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
314422016	Congenital deformity of spine	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590355017	Congenital deformity of spine (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2095001000005116	kongenit rygsøjledeformitet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)