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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Only initial character case insensitive (core metadata concept) SNOMED CT core
3706573015 Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3706574014 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3706575010 Combined oxidative phosphorylation defect type 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3706572013 Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3706573015 Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3706574014 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3706575010 Combined oxidative phosphorylation defect type 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3454121001000117 Infantile hypertrophe Kardiomyopathie durch MRPL44-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5521641000241111 cardiomyopathie hypertrophique infantile due à une déficience de la protéine ribosomique mitochondriale L44 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5521641000241111 cardiomyopathie hypertrophique infantile due à une déficience de la protéine ribosomique mitochondriale L44 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454121001000117 Infantile hypertrophe Kardiomyopathie durch MRPL44-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Is a Hypertrophic mitochondrial cardiomyopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Due to Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Is a Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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