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718713000: Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)

Status: current, Not 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
3313307010 Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313308017 Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401823018 Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401824012 Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313307010 Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313307010 Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313308017 Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313308017 Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313306018 This syndrome has characteristics of hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a non-consanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401823018 Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401824012 Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3446841001000112 Hypertrophe Kardiomyopathie - Muskelhypotonie - Laktatazidose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5479541000241117 syndrome de cardiomyopathie avec hypotonie et acidose lactique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5479541000241117 syndrome de cardiomyopathie avec hypotonie et acidose lactique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3446841001000112 Hypertrophe Kardiomyopathie - Muskelhypotonie - Laktatazidose 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
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Due to Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Is a Congenital anomaly of skeletal muscle (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Is a Lactic acidosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Is a Hypertrophic mitochondrial cardiomyopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Associated morphology Hypertrophy false Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Finding site Myocardium structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Is a Congenital cardiovascular disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Is a Congenital anomaly of myocardium true Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Is a Secondary myopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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