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721880009: Congenital microgastria with limb reduction defect syndrome (disorder)


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


0 descendants.

Expanded Value Set


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)

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