FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

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

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

Descriptions:

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

0 descendants.

Expanded Value Set

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

This concept is not in any reference sets

Back to Start