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


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3323606012 Sengers syndrome en Synonym Active Case sensitive SNOMED CT core
3323608013 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3323609017 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Is a Congenital anomaly of myocardium true Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Finding site Myocardium structure true Inferred relationship Some 2
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Occurrence Congenital true Inferred relationship Some 2
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Associated morphology Hypertrophy true Inferred relationship Some 2
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Occurrence Congenital true Inferred relationship Some 1
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Finding site Structure of lens of eye true Inferred relationship Some 1
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Associated morphology Cataract false Inferred relationship Some 1
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Associated morphology Abnormally opaque structure true Inferred relationship Some 1
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Due to Mitochondrial cytopathy true Inferred relationship Some 3
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Is a Mitochondrial myopathy true Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Is a Congenital cataract true Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Is a Hypertrophic mitochondrial cardiomyopathy true Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Finding site Skeletal muscle structure true Inferred relationship Some 4
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Occurrence Congenital false Inferred relationship Some 4
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Occurrence Congenital false Inferred relationship Some 5
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Associated morphology Congenital cataract false Inferred relationship Some 4
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Finding site Structure of lens of eye false Inferred relationship Some 4
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Associated morphology Hypertrophy false Inferred relationship Some 5
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Finding site Myocardium structure false Inferred relationship Some 5
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Is a Congenital cardiovascular disorder false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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