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 |
3313014015 | A variant of self-healing collodion baby with manifestation of the presence at birth of a collodion membrane only at the extremities. Only 2 cases were described in the literature. In both cases, the babies healed soon after birth. In one case, molecular analysis was performed that revealed mutations in the TGM1 gene encoding transglutaminase 1, an enzyme involved in the cornification of the stratum corneum. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401803019 | A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401804013 | A variant of self-healing collodion baby (SHCB) characterised by the presence at birth of a collodion membrane only at the extremities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3313010012 | Acral self-healing collodion baby (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3313013014 | Acral 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 |
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | Is a | 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. | true | Inferred relationship | Some | ||
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | Occurrence | Infancy | false | Inferred relationship | Some | ||
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | Occurrence | Fetal or neonatal period | false | Inferred relationship | Some | ||
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | Associated morphology | dysgenese | false | Inferred relationship | Some | 4 | |
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 5 | |
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | Finding site | Skin structure | false | Inferred relationship | Some | 1 | |
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | Associated morphology | Proliferative hyperkeratosis | true | Inferred relationship | Some | 1 | |
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | Has interpretation | Abnormal | true | Inferred relationship | Some | 2 | |
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | Interprets | Keratinization | true | Inferred relationship | Some | 2 | |
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. | Finding site | Entire skin | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)