Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3498747011 | Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498748018 | Passwell Goodman Siprkowski syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3498749014 | Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5403744017 | Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403745016 | Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Is a | Renal impairment | true | Inferred relationship | Some | ||
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Is a | Autosomal recessive ichthyosis (disorder) | true | Inferred relationship | Some | ||
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 2 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Finding site | Kidney structure | false | Inferred relationship | Some | 2 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Interprets | Measurement of renal function | false | Inferred relationship | Some | 3 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Finding site | Kidney structure | true | Inferred relationship | Some | 1 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Interprets | Keratinization | true | Inferred relationship | Some | 4 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 4 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Is a | Functional finding | false | Inferred relationship | Some | ||
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Finding site | Entire skin | true | Inferred relationship | Some | 2 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 5 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 6 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 7 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) | Interprets | Renal function | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)