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1222667006: Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5048408012 PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048409016 Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5048410014 Piezo type mechanosensitive ion channel component 1-related generalised lymphatic dysplasia with non-immune hydrops fetalis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5048411013 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048412018 Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5048413011 PIEZO1-related generalised lymphatic dysplasia with systemic involvement en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048414017 PIEZO1-related generalized lymphatic dysplasia with systemic involvement en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048415016 Generalized lymphatic dysplasia of Fotiou en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5048416015 Generalised lymphatic dysplasia of Fotiou en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5048417012 PIEZO1-related lymphatic-related hydrops fetalis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400000010 A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400001014 A rare genetic primary lymphoedema characterised by uniform, widespread lymphoedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048408012 PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048409016 Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5048410014 Piezo type mechanosensitive ion channel component 1-related generalised lymphatic dysplasia with non-immune hydrops fetalis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5048411013 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048412018 Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5048413011 PIEZO1-related generalised lymphatic dysplasia with systemic involvement en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048414017 PIEZO1-related generalized lymphatic dysplasia with systemic involvement en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048415016 Generalized lymphatic dysplasia of Fotiou en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5048416015 Generalised lymphatic dysplasia of Fotiou en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5048417012 PIEZO1-related lymphatic-related hydrops fetalis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048418019 A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported while intelligence is normal and seizures are absent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048419010 A rare genetic primary lymphoedema characterised by uniform, widespread lymphoedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported while intelligence is normal and seizures are absent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400000010 A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400001014 A rare genetic primary lymphoedema characterised by uniform, widespread lymphoedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448281001000116 PIEZO1-assoziierter fetaler Hydrops mit generalisierter lymphatischer Dysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3448281001000116 PIEZO1-assoziierter fetaler Hydrops mit generalisierter lymphatischer Dysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (disorder) Is a Primary lymphedema true Inferred relationship Existential restriction modifier (core metadata concept)
Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (disorder) Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (disorder) Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (disorder) Associated morphology Lymphatic edema true Inferred relationship Existential restriction modifier (core metadata concept) 1
Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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