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732958004: Spastic paraplegia with precocious puberty syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498446015 Spastic paraplegia with precocious puberty syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498447012 Spastic paraplegia with precocious puberty syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403665019 Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403666018 Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterised by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic paraplegia with precocious puberty syndrome (disorder) Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) Is a Complicated hereditary spastic paraplegia false Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) Is a Reproductive system hereditary disorder true Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) Is a Precocious puberty (disorder) true Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Spastic paraplegia with precocious puberty syndrome (disorder) Finding site Gonadal endocrine structure false Inferred relationship Some 4
Spastic paraplegia with precocious puberty syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Spastic paraplegia with precocious puberty syndrome (disorder) Finding site Lower limb structure false Inferred relationship Some 5
Spastic paraplegia with precocious puberty syndrome (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) Associated morphology Degeneration false Inferred relationship Some 1
Spastic paraplegia with precocious puberty syndrome (disorder) Occurrence Congenital false Inferred relationship Some 1
Spastic paraplegia with precocious puberty syndrome (disorder) Finding site Spinal cord structure false Inferred relationship Some 1
Spastic paraplegia with precocious puberty syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) Associated morphology Degenerative abnormality false Inferred relationship Some 1
Spastic paraplegia with precocious puberty syndrome (disorder) Is a Disorder of endocrine gonad false Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) Is a Congenital anomaly of endocrine gonad (disorder) false Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Spastic paraplegia with precocious puberty syndrome (disorder) Occurrence Congenital false Inferred relationship Some 2
Spastic paraplegia with precocious puberty syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Spastic paraplegia with precocious puberty syndrome (disorder) Associated morphology Maturation acceleration false Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) Finding site Gonadal endocrine structure false Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) Is a Chronic disease of genitourinary system true Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) Is a Chronic mental disorder false Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) Is a Autosomal dominant hereditary spastic paraplegia false Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 1
Spastic paraplegia with precocious puberty syndrome (disorder) Finding site Spinal cord structure true Inferred relationship Some 4
Spastic paraplegia with precocious puberty syndrome (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 4
Spastic paraplegia with precocious puberty syndrome (disorder) Finding site Lower limb structure false Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) Finding site Gonadal endocrine structure true Inferred relationship Some 2
Spastic paraplegia with precocious puberty syndrome (disorder) Associated morphology Maturation acceleration true Inferred relationship Some 2
Spastic paraplegia with precocious puberty syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Spastic paraplegia with precocious puberty syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5
Spastic paraplegia with precocious puberty syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
Spastic paraplegia with precocious puberty syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 6
Spastic paraplegia with precocious puberty syndrome (disorder) Interprets Movement true Inferred relationship Some 7
Spastic paraplegia with precocious puberty syndrome (disorder) Interprets Movement observable true Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) Has interpretation Absent true Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 8
Spastic paraplegia with precocious puberty syndrome (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 9
Spastic paraplegia with precocious puberty syndrome (disorder) Is a Autosomal dominant complex hereditary spastic paraplegia (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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