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 |
756881000241110 | syndrome de petite taille-anomalies hypophysaires et cérébelleuses-selle turcique anormale (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
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 Common French translation module (core metadata concept) |
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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | localisation d'une constatation (attribut) | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 1 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 3 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | est un(e) (attribut) | Hypoplasia of hypothalamus | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | est un(e) (attribut) | anomalie congénitale du crâne (trouble) | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | est un(e) (attribut) | Congenital hypoplasia of part of brain | false | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | est un(e) (attribut) | Congenital malformation of anterior pituitary | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | est un(e) (attribut) | Anterior pituitary hormone deficiency (disorder) | true | Inferred relationship | Some | ||
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | morphologie associée (attribut) | Congenital hypoplasia | false | Inferred relationship | Some | 2 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | localisation d'une constatation (attribut) | Adenohypophysis structure | true | Inferred relationship | Some | 2 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 3 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | localisation d'une constatation (attribut) | Entire pituitary fossa | false | Inferred relationship | Some | 3 | |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | est un(e) (attribut) | Congenital hypoplasia of cerebrum | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)