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732958004: syndrome de parésie spastique-puberté précoce (trouble)


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
762751000241118 syndrome de parésie spastique-puberté précoce (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
870621000172116 syndrome de parésie spastique-puberté précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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) morphologie associée (attribut) Degenerative abnormality false Inferred relationship Some 1
Spastic paraplegia with precocious puberty syndrome (disorder) est un(e) (attribut) pathologie gonadique endocrine (trouble) false Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) est un(e) (attribut) Congenital anomaly of endocrine gonad (disorder) false Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some 2
Spastic paraplegia with precocious puberty syndrome (disorder) survenue (attribut) congénital 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) morphologie associée (attribut) Maturation acceleration false Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) localisation d'une constatation (attribut) Gonadal endocrine structure false Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) est un(e) (attribut) maladie chronique de l'appareil génito-urinaire true Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) est un(e) (attribut) Chronic mental disorder true Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 1
Spastic paraplegia with precocious puberty syndrome (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 4
Spastic paraplegia with precocious puberty syndrome (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 4
Spastic paraplegia with precocious puberty syndrome (disorder) localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) localisation d'une constatation (attribut) Gonadal endocrine structure true Inferred relationship Some 2
Spastic paraplegia with precocious puberty syndrome (disorder) morphologie associée (attribut) Maturation acceleration true Inferred relationship Some 2
Spastic paraplegia with precocious puberty syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder false Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) est un(e) (attribut) Reproductive system hereditary disorder true Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) est un(e) (attribut) Precocious puberty (disorder) true Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Spastic paraplegia with precocious puberty syndrome (disorder) localisation d'une constatation (attribut) Gonadal endocrine structure false Inferred relationship Some 4
Spastic paraplegia with precocious puberty syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Spastic paraplegia with precocious puberty syndrome (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some 5
Spastic paraplegia with precocious puberty syndrome (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Spastic paraplegia with precocious puberty syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Spastic paraplegia with precocious puberty syndrome (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 1
Spastic paraplegia with precocious puberty syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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