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 |
3326434015 | Congenital microgastria with limb reduction defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3326435019 | Congenital microgastria with limb reduction defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5402727010 | A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402728017 | A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3326434015 | Congenital microgastria with limb reduction defect syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3326434015 | Congenital microgastria with limb reduction defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3326435019 | Congenital microgastria with limb reduction defect syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3326435019 | Congenital microgastria with limb reduction defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3326433014 | Syndrome with the association of microgastria and limb reduction defect. Most of the 50 cases of congenital microgastria reported in the literature are associated with other multiple congenital anomalies. Isolated congenital microgastria is an extremely rare condition; only three cases have been reported in the literature so far. The clinical manifestations of congenital microgastria depend on the stage at which the embryologic development of the stomach is arrested. The microgastria-limb reduction association is believed to arise as a result of aberrant mesodermal development in the fourth or fifth week of embryonic life. The outcome for most of the reported patients with severe microgastria was either death or extreme malnutrition. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402727010 | A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402728017 | A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3423251001000116 | Mikrogastrie - Extremitätenverkürzung | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5825971000241114 | syndrome de microgastrie congénitale avec réduction des membres | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5825981000241111 | syndrome de microgastrie congénitale avec anomalie longitudinale des membres | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5825971000241114 | syndrome de microgastrie congénitale avec réduction des membres | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5825981000241111 | syndrome de microgastrie congénitale avec anomalie longitudinale des membres | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3423251001000116 | Mikrogastrie - Extremitätenverkürzung | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Is a | Longitudinal deficiency of limb | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Is a | Congenital microgastria (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Associated morphology | Congenital smallness | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Finding site | Entire stomach | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Associated morphology | Abnormal shortening | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Finding site | Entire limb | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Is a | Congenital anomaly of limb | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Associated morphology | Abnormal shortening | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Finding site | Entire limb | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Is a | Congenital deformity (disorder) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)