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778011005: Severe intellectual disability and progressive spastic paraplegia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3736421018 Severe intellectual disability and progressive spastic paraplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736422013 Severe intellectual disability and progressive spastic paraplegia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736423015 AP4 deficiency syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736424014 A rare complex spastic paraplegia with characteristics of early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory and some develop seizures and stereotypic laughter. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
943131000172114 déficience intellectuelle sévère et paraplégie spastique progressive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
995721000172118 paraplégie spastique autosomique récessive type 47 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
882001000172111 ernstige intellectuele achterstand en progressieve spastische paraplegie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
952881000172114 AP4-deficiëntiesyndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Severe intellectual disability and progressive spastic paraplegia Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Severe intellectual disability and progressive spastic paraplegia Finding site Spinal cord structure true Inferred relationship Some 1
Severe intellectual disability and progressive spastic paraplegia Occurrence Congenital false Inferred relationship Some 2
Severe intellectual disability and progressive spastic paraplegia Is a Severe intellectual disability (disorder) true Inferred relationship Some
Severe intellectual disability and progressive spastic paraplegia Occurrence Congenital false Inferred relationship Some 1
Severe intellectual disability and progressive spastic paraplegia Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Severe intellectual disability and progressive spastic paraplegia Finding site Lower limb structure (body structure) false Inferred relationship Some 2
Severe intellectual disability and progressive spastic paraplegia Associated morphology Degeneration false Inferred relationship Some 1
Severe intellectual disability and progressive spastic paraplegia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Severe intellectual disability and progressive spastic paraplegia Associated morphology Degenerative abnormality true Inferred relationship Some 1
Severe intellectual disability and progressive spastic paraplegia Is a Developmental hereditary disorder true Inferred relationship Some
Severe intellectual disability and progressive spastic paraplegia Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Severe intellectual disability and progressive spastic paraplegia Is a Chronic mental disorder false Inferred relationship Some
Severe intellectual disability and progressive spastic paraplegia Clinical course Progressive (qualifier value) true Inferred relationship Some 4
Severe intellectual disability and progressive spastic paraplegia Interprets Intellectual ability (observable entity) false Inferred relationship Some 5
Severe intellectual disability and progressive spastic paraplegia Has interpretation Impaired false Inferred relationship Some 5
Severe intellectual disability and progressive spastic paraplegia Interprets Adaptation behavior (observable entity) false Inferred relationship Some 6
Severe intellectual disability and progressive spastic paraplegia Has interpretation Impaired false Inferred relationship Some 6
Severe intellectual disability and progressive spastic paraplegia Interprets Movement true Inferred relationship Some 7
Severe intellectual disability and progressive spastic paraplegia Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Severe intellectual disability and progressive spastic paraplegia Finding site Structure of left lower limb (body structure) true Inferred relationship Some 6
Severe intellectual disability and progressive spastic paraplegia Interprets Movement observable true Inferred relationship Some 5
Severe intellectual disability and progressive spastic paraplegia Has interpretation Absent true Inferred relationship Some 5
Severe intellectual disability and progressive spastic paraplegia Has interpretation Impaired true Inferred relationship Some 8
Severe intellectual disability and progressive spastic paraplegia Interprets Intellectual ability (observable entity) true Inferred relationship Some 9
Severe intellectual disability and progressive spastic paraplegia Interprets Adaptation behavior (observable entity) true Inferred relationship Some 8
Severe intellectual disability and progressive spastic paraplegia Has interpretation Impaired true Inferred relationship Some 9

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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