Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3498662015 | Trigonocephaly, short stature, developmental delay syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498663013 | Trigonocephaly, short stature, developmental delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498664019 | Say Meyer syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3499954015 | Syndrome with characteristics of short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance cannot be ruled out. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4104711000172119 | syndroom van Say-Meyer | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4104721000172112 | syndroom van trigonocefalie, kleine gestalte en ontwikkelingsachterstand | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Is a | Trigonocephaly | true | Inferred relationship | Some | ||
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Is a | Developmental delay | true | Inferred relationship | Some | ||
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Associated morphology | Congenital abnormal shape | false | Inferred relationship | Some | 2 | |
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Finding site | Frontal bone structure | true | Inferred relationship | Some | 2 | |
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 2 | |
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Finding site | Structure of frontal suture of skull | false | Inferred relationship | Some | 2 | |
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Associated morphology | Congenital abnormal shape | false | Inferred relationship | Some | 3 | |
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Finding site | Frontal bone structure | false | Inferred relationship | Some | 3 | |
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Finding site | Structure of frontal suture of skull | true | Inferred relationship | Some | 1 | |
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Associated morphology | Congenital premature fusion | true | Inferred relationship | Some | 1 | |
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Associated morphology | Abnormal shape (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets