FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

1172698005: Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
4635438018 Transport and golgi organization 2 homolog-related metabolic encephalopathy, arrhythmia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
4635439014 Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4635440011 TANGO2-related metabolic encephalopathy, arrhythmia syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
4635441010 Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
4635442015 Transport and golgi organisation 2 homolog-related metabolic encephalopathy, arrhythmia 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
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a Chronic disease of musculoskeletal system false Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a Chronic heart disease false Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a Chronic metabolic disorder false Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a Chronic mental disorder false Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a Metabolic encephalopathy true Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a Recurrent disease true Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a Cardiac arrhythmia associated with genetic disorder true Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a Chronic brain syndrome false Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Clinical course Recurrent true Inferred relationship Existential restriction modifier 2
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier 3
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Finding site Heart structure true Inferred relationship Existential restriction modifier 4
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 5
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Finding site Brain structure true Inferred relationship Existential restriction modifier 1
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Associated morphology Degenerative abnormality true Inferred relationship Existential restriction modifier 1
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a Rhabdomyolysis true Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Associated morphology Rhabdomyolysis true Inferred relationship Existential restriction modifier 3
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 6
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 6
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 7
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start