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732958004: Spastic paraplegia with precocious puberty syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3498447012 Spastic paraplegia with precocious puberty syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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