774205007: Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome

\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome

\Metabolic disease\Inborn error of metabolism\...

\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome

\Inherited metabolic disorder of nervous system\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome

\Congenital disease (disorder)\Inborn error of metabolism\...

\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome

\Inherited metabolic disorder of nervous system\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome

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

3728343010 Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3728344016 Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3728345015 A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Caused by homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3728346019 A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anaemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Caused by homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4209791000052116 syndrom med fördröjd tillväxt och utveckling, hypotoni, nedsatt syn och laktacidos sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome	Is a	Disorder of mitochondrial respiratory chain complexes	true	Inferred relationship	Some
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3728343010	Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728344016	Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728345015	A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Caused by homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728346019	A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anaemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Caused by homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4209791000052116	syndrom med fördröjd tillväxt och utveckling, hypotoni, nedsatt syn och laktacidos	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)