Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5013853012 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5013854018 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5013855017 | RHOA (ras homolog family member A) related mosaic ectodermal dysplasia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5013856016 | RHOA-related mosaic ectodermal dysplasia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5013859011 | A rare ectodermal dysplasia syndrome with characteristics of linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism and body asymmetry, in association with ocular, dental and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5013860018 | A rare ectodermal dysplasia syndrome with characteristics of linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism and body asymmetry, in association with ocular, dental and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia and microstomia. Brain imaging may show cystic leucoencephalopathy and ventricular dilation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Is a | Congenital deficiency of pigment of skin | true | Inferred relationship | Some | ||
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Is a | Ectodermal dysplasia with hair-tooth defects | true | Inferred relationship | Some | ||
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Is a | Congenital hypotrichia | true | Inferred relationship | Some | ||
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Is a | Genetic disease | false | Inferred relationship | Some | ||
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Finding site | Tooth structure | true | Inferred relationship | Some | 2 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 4 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 4 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Finding site | Skin structure | true | Inferred relationship | Some | 5 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Associated morphology | Hypopigmentation | true | Inferred relationship | Some | 5 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Finding site | Limb structure | true | Inferred relationship | Some | 6 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 6 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Is a | Genetic disorder of skin pigmentation (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR