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771442003: Ogden syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3706213011 Premature ageing appearance, developmental delay, cardiac arrhythmia syndrome en Synonym Active Case insensitive SNOMED CT core
3706214017 Ogden syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3706215016 Ogden syndrome en Synonym Active Case sensitive SNOMED CT core
3706216015 Premature aging appearance, developmental delay, cardiac arrhythmia syndrome en Synonym Active Case insensitive SNOMED CT core
3896359011 A rare genetic progeroid syndrome with a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrhythmia and skeletal anomalies. Patients typically present with widely opened fontanelle, mainly truncal hypotonia, waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. There is evidence this disease is caused by mutation in the NAA10 gene on chromosome Xq28. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ogden syndrome Occurrence Congenital true Inferred relationship Some 1
Ogden syndrome Finding site Skin structure true Inferred relationship Some 1
Ogden syndrome Is a X-linked hereditary disease true Inferred relationship Some
Ogden syndrome Is a Premature ageing syndrome 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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