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716335003: Congenital suprabulbar paresis (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3305547010 Congenital suprabulbar paresis en Synonym Active Case insensitive SNOMED CT core
3305548017 Worster Drought syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Worster Drought syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Worster Drought syndrome Occurrence Congenital true Inferred relationship Some 1
Worster Drought syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Worster Drought syndrome Finding site Structure of cerebrum true Inferred relationship Some 1
Worster Drought syndrome Is a Congenital anomaly of cerebrum true Inferred relationship Some
Worster Drought syndrome Interprets Movement true Inferred relationship Some 4
Worster Drought syndrome Interprets Movement observable true Inferred relationship Some 3
Worster Drought syndrome Has interpretation Absent true Inferred relationship Some 3
Worster Drought syndrome Is a Cerebral palsy true Inferred relationship Some
Worster Drought syndrome Is a Anomalies of cerebrum false Inferred relationship Some
Worster Drought syndrome Clinical course Non-progressive true Inferred relationship Some 2
Worster Drought syndrome Associated morphology Developmental abnormality false Inferred relationship Some 2
Worster Drought syndrome Occurrence Congenital false Inferred relationship Some 2
Worster Drought syndrome Finding site Structure of cerebrum false Inferred relationship Some 2

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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