Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3304951014 | Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304952019 | Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304953012 | Morse Rawnsley Sargent syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401240016 | A rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Is a | Holoprosencephaly sequence | true | Inferred relationship | Some | ||
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Is a | Arthrogryposis | false | Inferred relationship | Some | ||
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Is a | Congenital anomaly of central nervous system | true | Inferred relationship | Some | ||
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Finding site | Structure of central nervous system (body structure) | false | Inferred relationship | Some | 4 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 3 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 5 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 5 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Is a | Inherited arthrogryposis | true | Inferred relationship | Some | ||
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 2 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Finding site | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 2 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 4 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Finding site | Structure of joint region | true | Inferred relationship | Some | 2 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Interprets | Range of joint movement | true | Inferred relationship | Some | 4 | |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Finding site | Joint structure of multiple body sites (body structure) | 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