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 |
| 3644789015 | Zori Stalker Williams syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3644790012 | Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3644791011 | Pectus excavatum, macrocephaly, dysplastic nails syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5404242013 | Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404243015 | Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterised by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Is a | Macrocephaly | false | Inferred relationship | Some | ||
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Is a | Congenital anomaly of nail | true | Inferred relationship | Some | ||
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Is a | Congenital pectus excavatum (disorder) | true | Inferred relationship | Some | ||
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Finding site | Nail structure | false | Inferred relationship | Some | 4 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Associated morphology | Congenital deformity | false | Inferred relationship | Some | 2 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Associated morphology | Congenital deformity | false | Inferred relationship | Some | 1 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Finding site | Bone structure of sternum | false | Inferred relationship | Some | 2 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Finding site | Bone structure of rib | false | Inferred relationship | Some | 1 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Finding site | Bone structure of sternum | false | Inferred relationship | Some | 3 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Finding site | Entire head | false | Inferred relationship | Some | 3 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Associated morphology | Congenital enlargement | false | Inferred relationship | Some | 3 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Finding site | Entire head | false | Inferred relationship | Some | 2 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Is a | Congenital anomaly of head | false | Inferred relationship | Some | ||
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Associated morphology | Enlargement (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Associated morphology | Deformity | false | Inferred relationship | Some | 1 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Associated morphology | Deformity | false | Inferred relationship | Some | 3 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 4 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Finding site | Nail unit structure | true | Inferred relationship | Some | 4 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 5 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Interprets | Head circumference | true | Inferred relationship | Some | 6 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 2 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Is a | Congenital macrocephaly (disorder) | true | Inferred relationship | Some | ||
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 6 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Is a | Skin lesion | true | Inferred relationship | Some | ||
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Is a | Congenital dysplasia of limb (disorder) | true | Inferred relationship | Some | ||
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Associated morphology | Depression deformity (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Finding site | Bone structure of sternum | true | Inferred relationship | Some | 1 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Finding site | Bone structure of rib | true | Inferred relationship | Some | 3 | |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) | Associated morphology | Abnormal curvature | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR