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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. Date: 31-Jan 2019. Module: SNOMED CT core module

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 SNOMED CT core module
3706573015 Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
3706574014 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
3706575010 Combined oxidative phosphorylation defect type 16 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
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency Is a Hypertrophic mitochondrial cardiomyopathy true Inferred relationship Existential restriction modifier
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency Due to Mitochondrial cytopathy true Inferred relationship Existential restriction modifier 2
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency Finding site Myocardium structure true Inferred relationship Existential restriction modifier 1
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier 1
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency Is a Mitochondrial cytopathy true Inferred relationship Existential restriction modifier
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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