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 |
3313012016 | A minor variant of autosomal recessive congenital ichthyosis with manifestation of a collodion membrane at birth that heals within the first weeks of life. The exact prevalence is unknown. Approximately 25 cases have been reported in the literature. After the shedding of the membrane, patients present with mild scaling. Caused by mutations in the TGM1, ALOXE3 or ALOX12B genes encoding respectively transglutaminase 1, involved in the cornification of the stratum corneum, and arachidonate 3 and 12(R) lipoxygenases involved in lipid metabolism. Transmission is autosomal recessive. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401801017 | Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401802012 | Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterised by the presence of a collodion membrane at birth that heals within the first weeks of life. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3313009019 | Self-healing collodion baby (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3313011011 | Self-healing collodion baby | 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 |
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Is a | Lamellar ichthyosis | true | Inferred relationship | Some | ||
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Is a | Autosomal recessive ichthyosis (disorder) | true | Inferred relationship | Some | ||
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Occurrence | Infancy | false | Inferred relationship | Some | ||
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Occurrence | Fetal or neonatal period | false | Inferred relationship | Some | ||
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Associated morphology | dysgenese | false | Inferred relationship | Some | 4 | |
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 5 | |
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Finding site | Skin structure | false | Inferred relationship | Some | 1 | |
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Associated morphology | Proliferative hyperkeratosis | true | Inferred relationship | Some | 1 | |
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Has interpretation | Abnormal | true | Inferred relationship | Some | 2 | |
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Interprets | Keratinization | true | Inferred relationship | Some | 2 | |
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Finding site | Entire skin | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | Is a | True | Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. | Inferred relationship | Some |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)