Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3323360013 | Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323361012 | Short stature, pituitary and cerebellar defect and small sella turcica syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323362017 | This syndrome has characteristics of short stature, anterior pituitary hormone deficiency, small sella turcica and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
894321000172113 | syndrome de petite taille-anomalies hypophysaires et cérébelleuses-selle turcique anormale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Is a | Congenital anomaly of skull | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Is a | Congenital hypoplasia of part of brain | false | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Is a | Congenital malformation of anterior pituitary | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Is a | Anterior pituitary hormone deficiency (disorder) | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Associated morphology | Congenital hypoplasia | false | Inferred relationship | Some | 2 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Finding site | Adenohypophysis structure | true | Inferred relationship | Some | 2 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 3 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Finding site | Entire pituitary fossa | false | Inferred relationship | Some | 3 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Is a | Congenital hypoplasia of cerebrum | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Finding site | Entire pituitary fossa | true | Inferred relationship | Some | 1 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 1 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 2 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 3 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Is a | Hypoplasia of hypothalamus | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets