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 |
| 5401889017 | A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxisomal defects, however, have been reported. Transmission is thought to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401890014 | A rare mitochondrial disorder characterised by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxisomal defects, however, have been reported. Transmission is thought to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314289019 | Zellweger-like syndrome without peroxisomal anomaly (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314290011 | Zellweger-like syndrome without peroxisomal anomaly | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314291010 | Ahn Lerman Sagie syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxisomal defects, however, have been reported. Transmission is thought to be autosomal recessive. | Is a | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | true | Inferred relationship | Some | ||
| A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxisomal defects, however, have been reported. Transmission is thought to be autosomal recessive. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxisomal defects, however, have been reported. Transmission is thought to be autosomal recessive. | Is a | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
| A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxisomal defects, however, have been reported. Transmission is thought to be autosomal recessive. | Associated morphology | dysgenese | false | Inferred relationship | Some | 1 | |
| A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxisomal defects, however, have been reported. Transmission is thought to be autosomal recessive. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxisomal defects, however, have been reported. Transmission is thought to be autosomal recessive. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxisomal defects, however, have been reported. Transmission is thought to be autosomal recessive. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxisomal defects, however, have been reported. Transmission is thought to be autosomal recessive. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR