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 |
| 3324717013 | A severe fetal malformation syndrome with characteristics of craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. Mostly present in families of Finnish descent. The syndrome also has characteristics of postaxial and preaxial polydactyly. Caused by mutations in HYLS1 (11q24.2) and KIF7 (15q26.1). Inheritance is autosomal recessive. Stillbirth or neonatal death is the rule, although rare cases with several months’ survival have been reported. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4361395014 | A severe fetal malformation syndrome with characteristics of craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. Mostly present in families of Finnish descent. The syndrome also has characteristics of postaxial and preaxial polydactyly. Caused by mutations in HYLS1 (11q24.2) and KIF7 (15q26.1). Inheritance is autosomal recessive. Stillbirth or neonatal death is the rule, although rare cases with several months of survival have been reported. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402660019 | Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402661015 | Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3324496018 | Hydrolethalus syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3324712019 | Hydrolethalus syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. | Is a | Multiple congenital anomalies of fetus | false | Inferred relationship | Some | ||
| Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. | Occurrence | Fetal period | false | Inferred relationship | Some | 2 | |
| Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. | Associated morphology | dysgenese | false | Inferred relationship | Some | 2 | |
| Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. | Finding site | Fetal structure | false | Inferred relationship | Some | 2 | |
| Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. | Finding site | Fetal structure | false | Inferred relationship | Some | 1 | |
| Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. | Is a | Disorder of fetal structure | true | Inferred relationship | Some | ||
| Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. | Occurrence | Fetal period | true | Inferred relationship | Some | 1 | |
| Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. | Is a | Fetus with hereditary disease | 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