Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3759311017 | A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759312012 | A rare syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759308018 | Ichthyosis, short stature, brachydactyly, microspherophakia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3759309014 | Ichthyosis, short stature, brachydactyly, microspherophakia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3759310016 | 15q26.3 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Interprets | Keratinization | true | Inferred relationship | Some | 5 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Is a | Microspherophakia (disorder) | true | Inferred relationship | Some | ||
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Is a | Autosomal recessive ichthyosis (disorder) | true | Inferred relationship | Some | ||
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Finding site | Lens clear | true | Inferred relationship | Some | 3 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Is a | Functional finding | false | Inferred relationship | Some | ||
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Has interpretation | Abnormal | true | Inferred relationship | Some | 5 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Is a | Brachydactyly | true | Inferred relationship | Some | ||
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Finding site | Digit structure | true | Inferred relationship | Some | 1 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Finding site | Lens clear | true | Inferred relationship | Some | 4 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 1 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Associated morphology | Congenital abnormal roundness | true | Inferred relationship | Some | 3 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Associated morphology | kongenit lille statur | false | Inferred relationship | Some | 4 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Finding site | Skin structure | false | Inferred relationship | Some | 2 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Finding site | Entire skin | true | Inferred relationship | Some | 2 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Interprets | Height / growth measure | true | Inferred relationship | Some | 6 | |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR