771513008: Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\...

\Myocardial finding\Myocardial disease\Cardiomyopathy\...

\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
\Disease\Metabolic disease\Mitochondrial cytopathy\Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3706572013 Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3706573015 Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency en Synonym Active Initial character case insensitive SNOMED CT core

3706574014 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency en Synonym Active Initial character case insensitive SNOMED CT core

3706575010 Combined oxidative phosphorylation defect type 16 en Synonym Active Case insensitive SNOMED CT core

3706576011 A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency and characteristics of hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-ophthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life. Caused by homozygous mutation in the MRPL44 gene on chromosome 2. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	Is a	Hypertrophic mitochondrial cardiomyopathy	true	Inferred relationship	Some
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	Due to	Mitochondrial cytopathy	true	Inferred relationship	Some	2
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	Finding site	Myocardium structure	true	Inferred relationship	Some	1
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	Associated morphology	Hypertrophy	true	Inferred relationship	Some	1
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	Is a	Mitochondrial cytopathy	true	Inferred relationship	Some
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3706572013	Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3706573015	Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3706574014	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3706575010	Combined oxidative phosphorylation defect type 16	en	Synonym	Active	Case insensitive	SNOMED CT core
3706576011	A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency and characteristics of hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-ophthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life. Caused by homozygous mutation in the MRPL44 gene on chromosome 2.	en	Definition	Active	Case sensitive	SNOMED CT core