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254038003: Congenital absence 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 absence 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 absence 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 absence 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 absence 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 absence 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 absence of spine
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378178017 Congenital absence of spine en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

644875013 Congenital absence of spine (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1613531000005111 Kongenit manglende rygsøjle 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 absence of spine	Is a	Congenital anomaly of spine	true	Inferred relationship	Some
Congenital absence of spine	Occurrence	Congenital	false	Inferred relationship	Some
Congenital absence of spine	Finding site	Bone structure of spine	false	Inferred relationship	Some	1
Congenital absence of spine	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital absence of spine	Occurrence	Congenital	false	Inferred relationship	Some
Congenital absence of spine	Finding site	Spinal struktur	false	Inferred relationship	Some	1
Congenital absence of spine	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of spine	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital absence of spine	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of spine	Finding site	Spinal struktur	false	Inferred relationship	Some	1
Congenital absence of spine	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital absence of spine	Finding site	Structure of vertebral column (body structure)	false	Inferred relationship	Some	2
Congenital absence of spine	Associated morphology	Congenital absence	false	Inferred relationship	Some	3
Congenital absence of spine	Finding site	Struktur af ryggens vertebralområde	false	Inferred relationship	Some	3
Congenital absence of spine	Is a	Congenital anomaly of vertebral region of back	false	Inferred relationship	Some
Congenital absence of spine	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital absence of spine	Finding site	Struktur af ryggens vertebralområde	false	Inferred relationship	Some	1
Congenital absence of spine	Is a	Congenital absence	false	Inferred relationship	Some
Congenital absence of spine	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of spine	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital absence of spine	Finding site	Structure of vertebral column and/or spinal cord (body structure)	true	Inferred relationship	Some	1
Congenital absence of spine	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Kongenit manglende rygsøjle, ikke klassificeret andetsteds	Is a	False	Congenital absence of spine	Inferred relationship	Some
Congenital absence of vertebra	Is a	True	Congenital absence of spine	Inferred relationship	Some
Hemimyelia	Is a	True	Congenital absence of spine	Inferred relationship	Some
Amyelia	Is a	True	Congenital absence of spine	Inferred relationship	Some
kongenit manglende cokcygealhvirvel	Is a	False	Congenital absence of spine	Inferred relationship	Some
Lumbosacral agenesis	Is a	False	Congenital absence of spine	Inferred relationship	Some
Sacral agenesis	Is a	False	Congenital absence of spine	Inferred relationship	Some
Congenital absence of arch of cervical vertebra (disorder)	Is a	False	Congenital absence of spine	Inferred relationship	Some
Congenital absence of arch of thoracic vertebra	Is a	False	Congenital absence of spine	Inferred relationship	Some
Congenital absence of centrum of cervical vertebra	Is a	False	Congenital absence of spine	Inferred relationship	Some
Congenital absence of centrum of sacral vertebra	Is a	False	Congenital absence of spine	Inferred relationship	Some
Congenital absence of arch of lumbar vertebra	Is a	False	Congenital absence of spine	Inferred relationship	Some
Congenital absence of centrum of lumbar vertebra	Is a	False	Congenital absence of spine	Inferred relationship	Some
Congenital absence of arch of sacral vertebra	Is a	False	Congenital absence of spine	Inferred relationship	Some
hemicentrisk centrum i sakralhvirvels corpus vertebrae	Is a	False	Congenital absence of spine	Inferred relationship	Some
Congenital absence of centrum of thoracic vertebra	Is a	False	Congenital absence of spine	Inferred relationship	Some
kongenit manglende hoved og rygmarv	Is a	False	Congenital absence of spine	Inferred relationship	Some
Congenital hemivertebra	Is a	False	Congenital absence of spine	Inferred relationship	Some
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.	Is a	False	Congenital absence of spine	Inferred relationship	Some
Congenital aplasia of odontoid process (disorder)	Is a	False	Congenital absence of spine	Inferred relationship	Some
hemicentrisk centrum i halshvirvels corpus vertebrae	Is a	False	Congenital absence of spine	Inferred relationship	Some
hemicentrisk lændehvirvels corpus vertebrae	Is a	False	Congenital absence of spine	Inferred relationship	Some
hemicentrisk centrum i brysthvirvels corpus vertebrae	Is a	False	Congenital absence of spine	Inferred relationship	Some
Aplasia of spinal cord white matter column (disorder)	Is a	True	Congenital absence of spine	Inferred relationship	Some
Aplasia of vertebral column	Is a	True	Congenital absence of spine	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378178017	Congenital absence of spine	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644875013	Congenital absence of spine (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1613531000005111	Kongenit manglende rygsøjle	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)