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 |
| 9792981000146116 | syndroom van groeiachterstand, ontwikkelingsachterstand, hypotonie, verlies van gezichtsvermogen en lactaatacidose (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 9792991000146119 | syndroom van groeiachterstand, ontwikkelingsachterstand, hypotonie, verlies van gezichtsvermogen en lactaatacidose | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 10148691000146110 | syndroom van vertraagde groei en ontwikkeling, hypotonie, visuele beperking en melkzuuracidose | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 10148701000146110 | syndroom van groei- en ontwikkelingsachterstand, hypotonie, visuele beperking en lactaatacidose | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 |
| 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 | ||
| Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome | Is a | Congenital neurological disorder (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR