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782884005: Pontine tegmental cap dysplasia (disorder)


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3756547016 Pontine tegmental cap dysplasia en Synonym Active Case insensitive SNOMED CT core
3756548014 Pontine tegmental cap dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3756549018 PTCD - pontine tegmental cap dysplasia en Synonym Active Case sensitive SNOMED CT core
3756550018 A rare central nervous system malformation with characteristics of a specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been reported. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pontine tegmental cap dysplasia Pathological process Pathological developmental process true Inferred relationship Some 1
Pontine tegmental cap dysplasia Is a Dysgenesis of the brainstem true Inferred relationship Some
Pontine tegmental cap dysplasia Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Pontine tegmental cap dysplasia Is a Multiple system malformation syndrome true Inferred relationship Some
Pontine tegmental cap dysplasia Occurrence Congenital true Inferred relationship Some 1
Pontine tegmental cap dysplasia Finding site Structure of tegmental portion of pons true Inferred relationship Some 1
Pontine tegmental cap dysplasia Is a Finding of head region 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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