700448000: syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2990594011 EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2990596013 Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2990613014 Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6011671000146113 EAST-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6981431000146116 syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6981441000146112 syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Is a	multisysteemaandoening	false	Inferred relationship	Some
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Is a	Hypocalciuria	false	Inferred relationship	Some
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Is a	familiaire tubulopathie met hypokaliëmie en hypomagnesiëmie	false	Inferred relationship	Some
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Is a	Hereditary nephropathy (disorder)	false	Inferred relationship	Some
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Associated morphology	ontsteking (afwijkende morfologie)	false	Inferred relationship	Some	1
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Finding site	Structure of parenchyma of kidney	false	Inferred relationship	Some	1
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Associated morphology	ontsteking (afwijkende morfologie)	false	Inferred relationship	Some	2
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Finding site	Structure of interstitial tissue of kidney	false	Inferred relationship	Some	2
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Is a	Renal hypocalciuria (disorder)	false	Inferred relationship	Some
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Is a	Hereditary ataxia (disorder)	false	Inferred relationship	Some
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Finding site	Structure of interstitial tissue of kidney	false	Inferred relationship	Some	1
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Associated morphology	Inflammatory morphology (morphologic abnormality)	false	Inferred relationship	Some	1
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Associated morphology	Inflammatory morphology (morphologic abnormality)	false	Inferred relationship	Some	2
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Finding site	Renal tubule structure (body structure)	false	Inferred relationship	Some	2
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)