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 | 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 | morphologie associée (attribut) | Proliferative hyperkeratosis | true | Inferred relationship | Some | 3 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | est un(e) (attribut) | Autosomal recessive ichthyosis (disorder) | true | Inferred relationship | Some | ||
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | a pour interprétation (attribut) | anormal | true | Inferred relationship | Some | 4 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | interprète (attribut) | Keratinization, function (observable entity) | true | Inferred relationship | Some | 4 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | localisation d'une constatation (attribut) | Entire skin | true | Inferred relationship | Some | 3 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | morphologie associée (attribut) | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | est un(e) (attribut) | Congenital alopecia | true | Inferred relationship | Some | ||
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | est un(e) (attribut) | Ectodermal dysplasia | true | Inferred relationship | Some | ||
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | est un(e) (attribut) | ichtyose lamellaire | true | Inferred relationship | Some | ||
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | survenue (attribut) | Infancy (qualifier value) | false | Inferred relationship | Some | ||
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | survenue (attribut) | Fetal or neonatal period | false | Inferred relationship | Some | ||
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 3 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 4 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 2 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 1 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | morphologie associée (attribut) | Hyperkeratosis | false | Inferred relationship | Some | 4 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | localisation d'une constatation (attribut) | Ectoderm structure | true | Inferred relationship | Some | 2 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | localisation d'une constatation (attribut) | Ectoderm structure | false | Inferred relationship | Some | 3 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR