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

Status: current, Primitive. 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 Active Case insensitive SNOMED CT core
3736422013 Severe intellectual disability and progressive spastic paraplegia (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3736423015 AP4 deficiency syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

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 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 Structure of lower limb 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 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 true Inferred relationship Some 4
Severe intellectual disability and progressive spastic paraplegia Interprets Intellectual ability 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 behaviour 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 true Inferred relationship Some 2
Severe intellectual disability and progressive spastic paraplegia Finding site Structure of left lower limb 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 true Inferred relationship Some 9
Severe intellectual disability and progressive spastic paraplegia Interprets Adaptation behaviour 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

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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