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 |
| 3331274015 | Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. The facial dysmorphism is considered as characteristic with upsweeping anterior scalp hair, a depressed nasal bridge, hypotonic appearance with an open mouth, a prominent everted upper lip and mild micrognathia. Hyperinsulinism appears to be an important feature of this disease and may be a preventable cause of death. The syndrome appears to be inherited in an autosomal recessive manner. There is evidence the syndrome is caused by homozygous or compound heterozygous mutation in the DIS3L2 gene on chromosome 2q37. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3331275019 | Perlman syndrome is characterised principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. The facial dysmorphism is considered as characteristic with upsweeping anterior scalp hair, a depressed nasal bridge, hypotonic appearance with an open mouth, a prominent everted upper lip and mild micrognathia. Hyperinsulinism appears to be an important feature of this disease and may be a preventable cause of death. The syndrome appears to be inherited in an autosomal recessive manner. There is evidence the syndrome is caused by homozygous or compound heterozygous mutation in the DIS3L2 gene on chromosome 2q37. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402864013 | Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402865014 | Perlman syndrome is characterised principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3331272016 | Perlman syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3331273014 | Perlman 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 |
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Is a | Congenital anomaly of the kidney | false | Inferred relationship | Some | ||
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Is a | Multiple malformation syndrome with early overgrowth | true | Inferred relationship | Some | ||
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Is a | Renal mass | true | Inferred relationship | Some | ||
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Is a | Congenital hamartoma (disorder) | true | Inferred relationship | Some | ||
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some | ||
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Associated morphology | Hamartoma | true | Inferred relationship | Some | 2 | |
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Finding site | Kidney structure | true | Inferred relationship | Some | 2 | |
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Associated morphology | dysgenese | false | Inferred relationship | Some | 2 | |
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Finding site | Face structure | false | Inferred relationship | Some | 2 | |
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Associated morphology | Hamartoma | false | Inferred relationship | Some | 3 | |
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Finding site | Kidney structure | false | Inferred relationship | Some | 3 | |
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. | Is a | Kidney lesion | 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