Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3639338017 | Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3639339013 | Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3640466015 | Jagell, Holmgren, Hofer syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3640801016 | An ectodermal dysplasia syndrome characterised by severe generalised lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3640802011 | An ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Is a | Congenital alopecia | true | Inferred relationship | Some | ||
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Is a | Ectodermal dysplasia | true | Inferred relationship | Some | ||
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Is a | Lamellar ichthyosis | true | Inferred relationship | Some | ||
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Occurrence | Infancy | false | Inferred relationship | Some | ||
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Occurrence | Fetal or neonatal period | false | Inferred relationship | Some | ||
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 2 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 4 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Finding site | Ectoderm structure | true | Inferred relationship | Some | 2 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 2 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Finding site | Ectoderm structure | false | Inferred relationship | Some | 3 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 3 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Associated morphology | dysgenese | false | Inferred relationship | Some | 2 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Associated morphology | Proliferative hyperkeratosis | true | Inferred relationship | Some | 3 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Is a | Autosomal recessive ichthyosis (disorder) | true | Inferred relationship | Some | ||
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Has interpretation | Abnormal | true | Inferred relationship | Some | 4 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Interprets | Keratinization | true | Inferred relationship | Some | 4 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Finding site | Entire skin | true | Inferred relationship | Some | 3 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets