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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
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
3499926010 Syndrome with characteristics of precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression. en Definition Active Entire term case sensitive (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
3425771001000117 Spastische Paraplegie-vorzeitige Pubertät-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
870621000172116 syndrome de parésie spastique-puberté précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
870621000172116 syndrome de parésie spastique-puberté précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3425771001000117 Spastische Paraplegie-vorzeitige Pubertät-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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