Status: current, Primitive. 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 | Active | Case insensitive | SNOMED CT core |
| 3728344016 | Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome (disorder) | en | Fully specified name | Active | Case insensitive | 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 | Case sensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome | Is a | Mitochondrial respiratory chain complexes disorder | true | Inferred relationship | Some | ||
| Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome | Finding site | Structure of nervous system | 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 |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR