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 |
5403705013 | A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403706014 | A rare developmental defect during embryogenesis characterised by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 | false | 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 | |
Trigonocephaly, short stature, developmental delay syndrome (disorder) | Associated morphology | Premature fusion | 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)