1303868000: intermediaire vorm van syndroom van ontwikkelingsachterstand, epilepsie en neonatale diabetes mellitus (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of neonate\Neonatal disorder\...

\Neonatal disorder of endocrine system (disorder)\Intermediate DEND syndrome

\Neonatal metabolic disorder (disorder)\Intermediate DEND syndrome

\Disease\Genetic disease\Intermediate DEND syndrome
\Disease\Disorder of foetus and/or newborn\Neonatal disorder\Neonatal disorder of endocrine system (disorder)\Intermediate DEND syndrome
\Disease\Disorder of foetus and/or newborn\Neonatal disorder\Neonatal metabolic disorder (disorder)\Intermediate DEND syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Neonatal disorder of endocrine system (disorder)\Intermediate DEND syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Diabetes mellitus\Diabetes mellitus due to genetic defect in beta cell function\Neonatal diabetes mellitus\Intermediate DEND syndrome
\Disease\Metabolic disease\Neonatal metabolic disorder (disorder)\Intermediate DEND syndrome
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism (disorder)\Diabetes mellitus\Diabetes mellitus due to genetic defect in beta cell function\Neonatal diabetes mellitus\Intermediate DEND syndrome
\Disease\Developmental disorder\Developmental delay\Intermediate DEND syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5308232015 Intermediate DEND syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5308233013 Developmental delay, epilepsy, neonatal diabetes syndrome, intermediate form (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5308234019 Developmental delay, epilepsy, neonatal diabetes syndrome, intermediate form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5308236017 Intermediate DEND (developmental delay, epilepsy, neonatal diabetes) syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
15096701000146118 intermediaire vorm van syndroom van ontwikkelingsachterstand, epilepsie en neonatale diabetes mellitus nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
15096711000146116 intermediair DEND-syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
15096721000146114 iDEND nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
15096731000146111 intermediaire vorm van syndroom van ontwikkelingsachterstand, epilepsie en neonatale diabetes mellitus (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
5308235018 A rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and has clinical characteristics of neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and the absence of epilepsy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intermediate DEND syndrome	Is a	Neonatal diabetes mellitus	true	Inferred relationship	Some
Intermediate DEND syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Intermediate DEND syndrome	Is a	Developmental delay	true	Inferred relationship	Some
Intermediate DEND syndrome	Is a	Neonatal metabolic disorder (disorder)	true	Inferred relationship	Some
Intermediate DEND syndrome	Is a	Neonatal disorder of endocrine system (disorder)	true	Inferred relationship	Some
Intermediate DEND syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Intermediate DEND syndrome	Occurrence	Neonatal	true	Inferred relationship	Some	1
Intermediate DEND syndrome	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
5308232015	Intermediate DEND syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5308233013	Developmental delay, epilepsy, neonatal diabetes syndrome, intermediate form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5308234019	Developmental delay, epilepsy, neonatal diabetes syndrome, intermediate form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5308236017	Intermediate DEND (developmental delay, epilepsy, neonatal diabetes) syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
15096701000146118	intermediaire vorm van syndroom van ontwikkelingsachterstand, epilepsie en neonatale diabetes mellitus	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
15096711000146116	intermediair DEND-syndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
15096721000146114	iDEND	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
15096731000146111	intermediaire vorm van syndroom van ontwikkelingsachterstand, epilepsie en neonatale diabetes mellitus (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5308235018	A rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and has clinical characteristics of neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and the absence of epilepsy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core