771442003: syndroom van vroegtijdige uiterlijke veroudering, ontwikkelingsachterstand en hartritmestoornis (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Ogden syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Ogden syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Ogden syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Ogden syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Ogden syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Ogden syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Ogden syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Ogden syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Ogden syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Ogden syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Ogden syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Premature aging syndrome (disorder)\Ogden syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Ogden syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Ogden syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Ogden syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Ogden syndrome (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Ogden syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Ogden syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706214017	Ogden syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706215016	Ogden syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706216015	Premature aging appearance, developmental delay, cardiac arrhythmia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6144791000146117	syndroom van Ogden	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6890701000146116	syndroom van vroegtijdige uiterlijke veroudering, ontwikkelingsachterstand en hartritmestoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6890711000146119	syndroom van vroegtijdige uiterlijke veroudering, ontwikkelingsachterstand en hartritmestoornis (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6890721000146112	vroegtijdige uiterlijke veroudering-ontwikkelingsachterstand-hartritmestoornis-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

GB English

US English

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