192949002: Congenital paraplegia (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Congenital paraplegia
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Congenital paraplegia
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Congenital paraplegia
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Congenital paraplegia

\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Congenital paraplegia
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Congenital paraplegia
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Congenital paraplegia
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Congenital paraplegia

\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\...

\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Congenital paraplegia

\Complete bilateral paralysis\Paraplegia\Congenital paraplegia

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital paraplegia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Congenital paraplegia
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Congenital paraplegia
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Congenital paraplegia
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Congenital paraplegia
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Congenital paraplegia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

297221013 Congenital paraplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

576784013 Congenital paraplegia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

76351000077113 paraplégie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital paraplegia	Is a	A form of spastic cerebral palsy affecting two limbs; usually the legs are affected more than the arms.	false	Inferred relationship	Some
Congenital paraplegia	Finding site	The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica.	false	Inferred relationship	Some
Congenital paraplegia	Finding site	Limb structure	false	Inferred relationship	Some
Congenital paraplegia	Is a	Congenital disease	true	Inferred relationship	Some
Congenital paraplegia	Is a	Paraplegia	true	Inferred relationship	Some
Congenital paraplegia	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	3
Congenital paraplegia	Finding site	Body structure that includes the hip, thigh, leg, ankle and foot.	true	Inferred relationship	Some	2
Congenital paraplegia	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital paraplegia	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Congenital paraplegia	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital paraplegia	Interprets	mouvement	false	Inferred relationship	Some	6
Congenital paraplegia	Finding site	Structure of right lower limb (body structure)	true	Inferred relationship	Some	4
Congenital paraplegia	Finding site	Structure of left lower limb (body structure)	true	Inferred relationship	Some	5
Congenital paraplegia	Interprets	Movement observable	true	Inferred relationship	Some	3
Congenital paraplegia	Has interpretation	Absent	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary spastic paraplegia	Is a	False	Congenital paraplegia	Inferred relationship	Some
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.	Is a	False	Congenital paraplegia	Inferred relationship	Some
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.	Is a	False	Congenital paraplegia	Inferred relationship	Some
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Is a	False	Congenital paraplegia	Inferred relationship	Some
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).	Is a	False	Congenital paraplegia	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
297221013	Congenital paraplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
576784013	Congenital paraplegia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
76351000077113	paraplégie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module