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716335003: Congenital suprabulbar paresis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3305546018 Congenital suprabulbar paresis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305547010 Congenital suprabulbar paresis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305548017 Worster Drought syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305549013 A form of cerebral palsy with characteristics of congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. Mean age at diagnosis is 6 years. The main clinical features are spasticity and limited movements around the mouth and throat from an early age, and brisk jaw jerks. Most cases are sporadic but several families with more than one affected member have been reported. Inheritance in these families appeared to follow an autosomal dominant pattern with variable expression and penetrance. 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
Congenital suprabulbar paresis (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Congenital suprabulbar paresis (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Congenital suprabulbar paresis (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital suprabulbar paresis (disorder) localisation d'une constatation (attribut) structure du cerveau true Inferred relationship Some 1
Congenital suprabulbar paresis (disorder) est un(e) (attribut) Congenital anomaly of cerebrum (disorder) true Inferred relationship Some
Congenital suprabulbar paresis (disorder) est un(e) (attribut) paralysie cérébrale (trouble) true Inferred relationship Some
Congenital suprabulbar paresis (disorder) est un(e) (attribut) Anomalies of cerebrum false Inferred relationship Some
Congenital suprabulbar paresis (disorder) évolution clinique (attribut) Non-progressive true Inferred relationship Some 2
Congenital suprabulbar paresis (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Congenital suprabulbar paresis (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Congenital suprabulbar paresis (disorder) localisation d'une constatation (attribut) structure du cerveau false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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