Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5100063011 | Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5100065016 | FAR1 deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5100066015 | Fatty acyl-CoA reductase 1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5100067012 | PFCRD - peroxisomal fatty acyl-CoA reductase 1 disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5100068019 | Fatty acyl-coenzyme A reductase 1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5400315017 | A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400316016 | A rare disorder of plasmalogen biosynthesis characterised by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Is a | Loss of single peroxisomal function | true | Inferred relationship | Some | ||
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Is a | Severe intellectual disability (disorder) | true | Inferred relationship | Some | ||
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Is a | Epilepsy | true | Inferred relationship | Some | ||
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 4 | |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 1 | |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 1 | |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 2 | |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Interprets | Body height measure (observable entity) | true | Inferred relationship | Some | 3 | |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Is a | Microcephaly (finding) | true | Inferred relationship | Some | ||
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Interprets | Head circumference | true | Inferred relationship | Some | 6 | |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 6 | |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR