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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
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 Inactive 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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital microgastria with limb reduction defect syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Congenital microgastria with limb reduction defect syndrome (disorder) Is a Longitudinal deficiency of limb true Inferred relationship Some
Congenital microgastria with limb reduction defect syndrome (disorder) Is a Congenital microgastria true Inferred relationship Some
Congenital microgastria with limb reduction defect syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 2
Congenital microgastria with limb reduction defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Congenital microgastria with limb reduction defect syndrome (disorder) Finding site Entire stomach true Inferred relationship Some 2
Congenital microgastria with limb reduction defect syndrome (disorder) Associated morphology Abnormal shortening false Inferred relationship Some 3
Congenital microgastria with limb reduction defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Congenital microgastria with limb reduction defect syndrome (disorder) Finding site Entire limb false Inferred relationship Some 3
Congenital microgastria with limb reduction defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital microgastria with limb reduction defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital microgastria with limb reduction defect syndrome (disorder) Is a Congenital anomaly of limb false Inferred relationship Some
Congenital microgastria with limb reduction defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital microgastria with limb reduction defect syndrome (disorder) Associated morphology Abnormal shortening true Inferred relationship Some 1
Congenital microgastria with limb reduction defect syndrome (disorder) Finding site Entire limb true Inferred relationship Some 1
Congenital microgastria with limb reduction defect syndrome (disorder) Is a Congenital deformity false Inferred relationship Some
Congenital microgastria with limb reduction defect syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 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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