25792000: Kearns-Sayre-syndroom (aandoening)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Kearns-Sayre syndrome (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Kearns-Sayre syndrome (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Kearns-Sayre syndrome (disorder)
\Metabolic disease\Mitochondrial cytopathy (disorder)\Kearns-Sayre syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

43223013 Kearns-Sayre syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

756150016 Kearns-Sayre syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

1224922018 Kearns-Sayre mitochondrial cytopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1224923011 Mitochondrial ocular myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1224924017 KSS - Kearns-Sayre syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3755650016 Oculocraniosomatic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

12881000146116 syndroom van Kearns-Sayre nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

1902511000146115 Kearns-Sayre-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

1902521000146113 Kearns-Sayre-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9522341000146118 kearns-sayresyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9237621000146112 KSS; zeldzame stofwisselingsziekte met als kenmerken onder meer spieraandoeningen, hartritmestoornissen en hangende oogleden. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Kearns-Sayre syndrome (disorder)	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Kearns-Sayre syndrome (disorder)	Is a	Disorder of pyruvate metabolism and mitochondrial respiratory chain	true	Inferred relationship	Some
Kearns-Sayre syndrome (disorder)	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Kearns-Sayre syndrome (disorder)	Is a	Mitochondrial cytopathy (disorder)	true	Inferred relationship	Some
Kearns-Sayre syndrome (disorder)	Is a	Disease of eye	false	Inferred relationship	Some
Kearns-Sayre syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Kearns-Sayre syndrome (disorder)	Finding site	Eye structure	false	Inferred relationship	Some
Kearns-Sayre syndrome (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Kearns-Sayre syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Kearns-Sayre syndrome (disorder)	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Kearns-Sayre syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	false	Inferred relationship	Some
Kearns-Sayre syndrome (disorder)	Is a	Degenerative disorder of musculoskeletal system	false	Inferred relationship	Some
Kearns-Sayre syndrome (disorder)	Is a	Secondary pigmentary retinal degeneration	false	Inferred relationship	Some
Kearns-Sayre syndrome (disorder)	Finding site	Retinal structure	false	Inferred relationship	Some	1
Kearns-Sayre syndrome (disorder)	Associated morphology	Pigmentary degeneration	false	Inferred relationship	Some	1
Kearns-Sayre syndrome (disorder)	Is a	Disorder of eye proper (disorder)	false	Inferred relationship	Some
Kearns-Sayre syndrome (disorder)	Finding site	Eye structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)