25792000: Kearns-Sayre syndrome (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\syndrome de Kearns-Sayre (trouble)

\trouble métabolique\Mitochondrial cytopathy\syndrome de Kearns-Sayre (trouble)
\trouble métabolique\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\syndrome de Kearns-Sayre (trouble)

\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\syndrome de Kearns-Sayre (trouble)

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

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

409811000241110 syndrome de Kearns-Sayre (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

885691000172117 syndrome de Kearns-Sayre fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
syndrome de Kearns-Sayre (trouble)	est un(e) (attribut)	Congenital anomaly of eye	false	Inferred relationship	Some
syndrome de Kearns-Sayre (trouble)	est un(e) (attribut)	Hereditary disorder of the visual system	false	Inferred relationship	Some
syndrome de Kearns-Sayre (trouble)	est un(e) (attribut)	Congenital anomaly of head	false	Inferred relationship	Some
syndrome de Kearns-Sayre (trouble)	est un(e) (attribut)	Disorder of pyruvate metabolism and mitochondrial respiratory chain	true	Inferred relationship	Some
syndrome de Kearns-Sayre (trouble)	est un(e) (attribut)	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
syndrome de Kearns-Sayre (trouble)	est un(e) (attribut)	Mitochondrial cytopathy	true	Inferred relationship	Some
syndrome de Kearns-Sayre (trouble)	est un(e) (attribut)	Disease of eye	false	Inferred relationship	Some
syndrome de Kearns-Sayre (trouble)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
syndrome de Kearns-Sayre (trouble)	est un(e) (attribut)	affection dégénérative du système musculosquelettique	false	Inferred relationship	Some
syndrome de Kearns-Sayre (trouble)	est un(e) (attribut)	Secondary pigmentary retinal degeneration	false	Inferred relationship	Some
syndrome de Kearns-Sayre (trouble)	localisation d'une constatation (attribut)	structure de la rétine	false	Inferred relationship	Some	1
syndrome de Kearns-Sayre (trouble)	morphologie associée (attribut)	Pigmentary degeneration	false	Inferred relationship	Some	1
syndrome de Kearns-Sayre (trouble)	est un(e) (attribut)	Disorder of eye proper (disorder)	false	Inferred relationship	Some
syndrome de Kearns-Sayre (trouble)	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some
syndrome de Kearns-Sayre (trouble)	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some
syndrome de Kearns-Sayre (trouble)	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some
syndrome de Kearns-Sayre (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)