25792000: Kearns-Sayre syndrome (disorder)

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

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

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

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets