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717812000: Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3323606012 Sengers syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323608013 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323609017 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401604011 Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401605012 Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterised by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323606012 Sengers syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323608013 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323608013 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323609017 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323609017 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323607015 A mitochondrial disease with characteristics of cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. May present in two forms, a neonatal lethal form or a chronic form. Hypertrophic cardiomyopathy is diagnosed at birth in half of the patients in both forms. Approximately half of the patients die within the first year of life due to cardiac failure. Nystagmus, strabismus, hypotonia, hyporeflexia and delayed motor development are occasional features. Those who survive the neonatal period and infancy manifest the chronic form with stable cardiomyopathy and myopathy and have a normal intellect. Physical mobility is impaired due to muscular weakness in most patients. In the majority of cases, mutations (nonsense, frame-shift, start codon or splice site) in the AGK gene have been identified. The reported mutations are transmitted in an autosomal recessive manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401604011 Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401605012 Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterised by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
524391000274110 Sengers-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454601001000119 Kongenitale Katarakt-hypertrophe Kardiomyopathie-mitochondriale Myopathie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
934401000172113 syndrome de Sengers fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
977101000172110 syndrome de cataracte congénitale-cardiomyopathie hypertrophique-myopathie mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
934401000172113 syndrome de Sengers fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
977101000172110 syndrome de cataracte congénitale-cardiomyopathie hypertrophique-myopathie mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
524391000274110 Sengers-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454601001000119 Kongenitale Katarakt-hypertrophe Kardiomyopathie-mitochondriale Myopathie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Due to Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a Mitochondrial myopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a Congenital cataract true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a Hypertrophic mitochondrial cardiomyopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Associated morphology Congenital cataract false Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Associated morphology Hypertrophy false Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Finding site Myocardium structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a Congenital cardiovascular disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a Congenital anomaly of myocardium true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Finding site Structure of lens of eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Associated morphology Cataract false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a Secondary myopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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