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472316006: Hypertrophic mitochondrial cardiomyopathy (disorder)


Status: current, 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
2951109019 Hypertrophic mitochondrial cardiomyopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2951132015 Hypertrophic mitochondrial cardiomyopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2951109019 Hypertrophic mitochondrial cardiomyopathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2951109019 Hypertrophic mitochondrial cardiomyopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2951132015 Hypertrophic mitochondrial cardiomyopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2951132015 Hypertrophic mitochondrial cardiomyopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5429741000241111 cardiomyopathie mitochondriale hypertrophique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5429741000241111 cardiomyopathie mitochondriale hypertrophique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


10 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypertrophic mitochondrial cardiomyopathy (disorder) Is a Hypertrophic cardiomyopathy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic mitochondrial cardiomyopathy (disorder) Is a Mitochondrial cardiomyopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic mitochondrial cardiomyopathy (disorder) Due to Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypertrophic mitochondrial cardiomyopathy (disorder) Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypertrophic mitochondrial cardiomyopathy (disorder) Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypertrophic mitochondrial cardiomyopathy (disorder) Is a Hypertrophic cardiomyopathy due to disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Hypertrophic mitochondrial cardiomyopathy associated with cataracts and lactic acidosis (disorder) Is a True Hypertrophic mitochondrial cardiomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Is a True Hypertrophic mitochondrial cardiomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a True Hypertrophic mitochondrial cardiomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Is a True Hypertrophic mitochondrial cardiomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation (disorder) Is a True Hypertrophic mitochondrial cardiomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Is a True Hypertrophic mitochondrial cardiomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 17 (disorder) Is a True Hypertrophic mitochondrial cardiomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a True Hypertrophic mitochondrial cardiomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a True Hypertrophic mitochondrial cardiomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
QRSL1-related combined oxidative phosphorylation defect Is a True Hypertrophic mitochondrial cardiomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

Description inactivation indicator reference set

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